Retrotope Expands Compassionate Use Access to RT001 for Amyotrophic Lateral Sclerosis

MedicalResearch.com Interview with:
RetrotopeRobert J Molinari, Ph.D.

President and CEO
Retrotope, Inc.

 

MedicalResearch.com: What is the background for this study?
How does RT001 differ from other treatments for neurodegenerative diseases? 

Response: Lipid peroxidation in critical cell and mitochondrial membranes represents a common pathway of cell death in many neurodegenerative diseases, regardless of the initiating trigger of original damage, e.g. aberrant gene expression, misfolded proteins such as tau and amyloid, environmental insults, etc. This hypothesis was supported by work showing that stabilizing lipids (using virtually indistinguishable isotopic variants of the original dietary molecules) was able to mitigate disease-related cell dysfunction, and reverse disease in a variety of animal models, and more recently, in human patients enrolled in clinical trials.

It has been known for decades that lipid peroxidation detritus of oxidized membrane fats are present in most all diseases of degeneration and aging, including Alzheimer’s disease, Parkinson’s disease, atherosclerosis, ALS, Huntington’s, and fatal inborn genetic errors resulting in neurodegenerative diseases (among others). The hypothesis that controlling such oxidation could provide therapeutic benefit was abandoned when numerous formal trials of classical antioxidants, e.g. Co-enzyme Q, Vitamin E, and others failed to provide meaningful benefit. We believed that the antioxidant mechanism used to attempt control of the membrane oxidation was flawed, but that the target itself was correct. Indeed, by using a new class of oral drugs that are lipids fortified against damage at the key susceptible bonds, we observed reduction in lipid peroxidation damage that halted, and even reversed neurodegenerative disease progression. Dosed in amounts and forms similar to omega 3 and 6 supplements, these drugs exhibited profound disease modification across a broad range of diseases in animal models, placebo controlled- and open label- human trials. Continue reading

Maybe Spinal Repair Cells Can Be Turned On and Off

MedicalResearch.com Interview with:

Pier Lorenzo Puri, M.D PhD Professor in the Development, Aging and Regeneration Program Sanford Burnham Prebys Medical Discovery Institute 

Dr. Puri

Pier Lorenzo Puri, M.D PhD
Professor in the Development, Aging and Regeneration Program
Sanford Burnham Prebys Medical Discovery Institute 

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: My lab has been studying special repair cells called fibro-adipogenic progenitors (FAPs) and how these cells change in models of motor neuron diseases. These cells usually repair muscles after acute injury. But we are finding the FAPs change dramatically in disease settings.

In this study we looked at these cells in models of spinal cord injury, ALS and spinal muscular atrophy, including muscle tissue from ALS patients. We found that FAPs change radically in several ways.

Most importantly, the cells used a different signaling pathway, IL-6-STAT3, and when we blocked this signaling muscle atrophy and fibrosis halted. While further studies in humans are needed, this is a promising finding as FDA-approved medicines that block IL-6 and STAT3 are available.  Continue reading

Genetic Overlap Between Some Types of ALS and and Dementia

MedicalResearch.com Interview with:

Celeste Karch, PhD Assistant Professor of Psychiatry Molecular mechanisms underlying tauopathies Washington University School of Medicine St Louis

Dr. Karch

Celeste Karch, PhD
Assistant Professor of Psychiatry
Molecular mechanisms underlying tauopathies
Washington University School of Medicine
St Louis

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Nearly half of all patients with amyotrophic lateral sclerosis (ALS), a fatal neuromuscular disorder, develop cognitive problems that affect memory and thinking. Why a disease that primarily affects movement also disrupts thinking has been unclear.

Our findings suggest that genetic connections between the two disorders may explain why they share some of the same features and suggest that some drugs developed to treat ALS also may work against frontotemporal dementia and vice versa. We used a statistical method in almost 125,000 individuals with ALS, frontotemporal dementia (FTD), progressive supranuclear palsy, corticobasal degeneration, Alzheimer’s disease and Parkinson’s disease to determine whether there are common genetic variants that increase risk for multiple neurodegenerative diseases.

We found that common variants near the MAPT gene, which makes the tau protein, increases risk for ALS. MAPT has previously had been associated with diseases including frontotemporal dementia and Alzheimer’s disease. But the gene hadn’t been linked to ALS. We also identified variations in a second gene, BNIP1, which normally plays an important role in protecting against cell death, increased the risk of both ALS and frontotemporal dementia. ImportantlyBNIP1 mRNA levels were altered in people who had ALS and in patients with frontotemporal dementia, suggesting the BNIP1 may be a potential therapeutic target for both disorders.

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BrainGate Technology Allows Tetraplegics To Rapidly Control Brain-Computer Interface

MedicalResearch.com Interview with:

Matthew McKee/BrainGate Collaboration

New technique enables rapid calibration of the BrainGate brain-computer interface.

David Brandman, MD, PhD
Postdoctoral research associate (neuroengineering), Brown University
Senior neurosurgical resident
Dalhousie University
BrainGate Website

MedicalResearch.com: What is the background for this study?

Response: People with cervical spinal cord injuries, ALS, or brainstem stroke, may lose some or all of their ability to use their arms or hands. In some cases, they may even lose the ability to speak. One approach to restoring neurologic function is by using a brain computer interface (BCI). BCIs record information from the brain, and then translate the recorded brain signals into commands used to control external devices. Our research group and others have shown that intracortical BCIs can provide people with tetraplegia the ability to communicate via a typing interface, to control a robotic limb for self-feeding, and to move their own muscles using functional electrical stimulation. Use of a BCI generally requires the oversight of a trained technician, both for system setup and calibration, before users can begin using the system independently.

An open question with intracortical BCIs is how long it takes people to get up and running before they can communicate independently with 2 dimensional cursor control. The goal of this study was to systematically examine this question in three people with paralysis. As part of the ongoing BrainGate2 clinical trial, each study participant (T5, T8, and T10) had tiny (4×4 mm) arrays of electrodes implanted into a part of their brain that coordinates arm control. Each participant used motor imagery – that is, attempted or imagined moving their body – to control a computer cursor in real time.

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ALS: Urinary p75ECD as a Prognostic, Disease Progression, and Pharmacodynamic Biomarker

MedicalResearch.com Interview with:

Mary-Louise Rogers, PhD Senior Research Fellow, Lab Head, Motor Neurone Disease and Neurotrophic Research Laboratory, Department of Human Physiology, Centre for Neuroscience, Flinders University, School of Medicine, South Australia, Australia

Dr. Rogers

Mary-Louise Rogers, PhD
Senior Research Fellow, Lab Head,
Motor Neurone Disease and Neurotrophic Research Laboratory,
Department of Human Physiology,
Centre for Neuroscience,
Flinders University, School of Medicine,
South Australia, Australia

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: ALS is a fatal neurodegenerative disease in which motor neurons, cells that control muscle activity such as walking, talking and breathing, gradually die off, resulting in paralysis. There is no cure for ALS.

In a groundbreaking study published in the journal Neurology, and led by Mary-Louise Rogers, Ph.D., senior research fellow at Flinders University, Australia, and Michael Benatar, M.D., Ph.D, University of Miami, Miller School of Medicine,  have identified concentrations of p75ECD, the extracellular domain on the common neurotrophin receptor p75, as the first biological fluid-based biomarker for ALS progression. .

Neurotrophin receptor p75 is a growth factor receptor for neurotrophins whom promote the survival of nerve cells. Under normal circumstances, it is highly expressed on motor neurons during development but decreases after birth. Following nerve injury, however, the expression of p75 is increased and the extracellular domain of p75 is detectable in urine. Dr Rogers and her Doctoral student Stephanie Shepheard hypothesized and then showed, that p75ECD is excreted into the urine of SOD1 mice, the most commonly used animal model of ALS. These findings empowered further investigation of p75ECD, showing raised levels in the urine of patients with ALS and that it might have potential as an ALS biomarker.

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Genetically Predisposed Patients May Develop ALS At Earlier Age

MedicalResearch.com Interview with:
Prof. Dr. Christine Van Broeckhoven PhD DSc
Professor in Molecular Biology and GeneticsUniversity of Antwerp
Science Director, VIB Center for Molecular Neurology
Research Director, Laboratory for Neurogenetics, Institute Born-Bunge
Senior Group Leader, Neurodegenerative Brain Diseases
University of Antwerp and
Dr. Sara Van Mossevelde, MD
Center for Molecular Neurology, VIB
Institute Born-Bunge, University of Antwerp
Department of Neurology and Memory Clinic
Hospital Network Antwerp Middelheim and Hoge Beuken
Antwerp, Belgium

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Patients with frontotemporal dementia (FTD) and/or amyotrophic lateral sclerosis (ALS) and a C9orf72 repeat expansion present with highly variable onset ages of disease. In the Belgian patient cohort the onset ages ranged from 29 to 82 years of age. This high variability suggested the influence of modifying factors on disease expression. As in other repeat expansion diseases, repeat length is the prime candidate as genetic modifier. In a molecular study (Gijselinck et al., Molecular psychiatry 2016), we were able to provide evidence for an inverse correlation of repeat length with onset age in affected parent – affected children in a C0orf72 families. Also, the degree of methylation of the C9orf72 repeat correlated with repeat size.

In this clinical study of affected parent – affected children pairs we provided additional evidence for the occurrence of disease anticipation in C9orf72 pedigrees by analyzing age at onset, disease duration and age at death in successive generations. Within 36 C9orf72 pedigrees with available age data of patients in two to four generations, we observed a significant decrease in age at onset across successive generation while no generational effect was seen on disease burden, disease duration or age at death.

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Brain–Computer Interface Allows Communication With Locked-In Patients

MedicalResearch.com Interview with:

Dr. Ujwal Chaudhary, PhD Institute of Medical Psychology and Behavioral Neurobiology University of Tübingen Tübingen, Germany

Dr. Ujwal Chaudhary

Dr. Ujwal Chaudhary, PhD
Institute of Medical Psychology and Behavioral Neurobiology
University of Tübingen
Tübingen, Germany

MedicalResearch.com: What is the background for this study?

Response: Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder which causes an Individual to be in Locked-in state (LIS), i.e. the patients have control of their vertical eye movement and blinking, and ultimately in Completely Locked-in state (CLIS), i.e, no control over their eye muscle. There are several assistive and augmentative (AAC) technology along with EEG based BCI which can be used be by the patients in LIS for communication but once they are in CLIS they do not have any means of communication.  Hence, there was a need to find an alternative learning paradigm and probably another neuroimaging technique to design a more effective BCI to help ALS patient in CLIS with communication.

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Brain-Computer Interface Allows Locked-in ALS Patient To Communicate

MedicalResearch.com Interview with:
Mariska Van Steensel PhD
Nick F. Ramsey, Ph.D.

Department of Neurology and Neurosurgery
Brain Center Rudolf Magnus
University Medical Center Utrecht
Utrecht, the Netherlands

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Patients who are severely paralyzed due to for example ALS or brain stem stroke are often unable to speak (also called ‘ Locked-in State’), and therefore need assistive devices, such as an eye tracker, for their communication. When these devices fail (e.g. due to environmental lighting or eye movement problems), people may indicate yes or no with eye blinks in response to closed questions. This leaves patients in a highly dependent position, since questions asked may or may not represent their actual wish or comment.

In the current study, we used a technology called brain-computer interfacing (BCI), to allow a patient with late-stage amyotrophic lateral sclerosis (ALS) to control a communication device using her brain signals. The patient was implanted with subdural electrodes that covered the brain area that is normally responsible for hand movement. The electrodes were connected with wires, subcutaneously, to an amplifier/transmitter device that was placed subcutaneously under the clavicle. The patient was able to generate a signal equivalent to a mouse-click with this brain-computer interface by attempting to move her hand, and used it to make selections of letters or words on her communication device, with high accuracy and a speed of 2 letters per minute. She used the brain-computer interface system to communicate whenever she was outside, as her eye-tracker device does not function well in that situation.

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Association Between Dietary Intake and Function in Amyotrophic Lateral Sclerosis

MedicalResearch.com Interview with:

Dr. Jeri Nieves PhD Director of bone density testing New York's Helen Hayes Hospital

Dr. Jeri Nieves

Dr. Jeri Nieves PhD
Director of bone density testing
New York’s Helen Hayes Hospital

MedicalResearch.com: What is the background for this study? What are the main findings?

Response: Amyotrophic lateral sclerosis (ALS) is a devastating severe neurodegenerative disorder that causes progressive muscle atrophy, paralyses, and eventual respiratory failure.

Our objective was to evaluate the associations between nutrition and severity of ALS around the time of diagnosis. This was a cross-sectional analysis of data from a multicenter cohort of 302 patients with ALS. We assessed nutrient intake using a modified Block Food Frequency Questionnaire. The outcomes were respiratory function (measured using percentage forced vital capacity; FVC%) and functional performance measured by ALS Functional Rating Scale–Revised (ALSFRS-R), both considered important indicators of the severity of ALS. Results of the regression analysis were that higher intakes of antioxidants and carotenes from vegetable intake were associated with higher ALSFRS-R scores or better %FVC.

We used a novel analysis to evaluate the diet as a whole and found that higher intakes of antioxidants, fiber from grains, vegetables, fruit, eggs, fish, and poultry were all associated with higher function in patients with ALS. However, milk and lunch meats were associated with lower measures of function. These consistent results from two different statistical analyses indicate that diet may help minimize the severity of ALS. Perhaps these findings point to the role of oxidative stress in ALS severity.

In summary, increased consumption of antioxidant nutrients, foods high in carotenoids and fiber, vegetables and fruits, poultry and fish are associated with better function around the time of ALS diagnosis.

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ALS Drug May Reverse Some Age-Related Cognitive Decline

MedicalResearch.com Interview with:
Ana Pereira, MD
Instructor in Clinical Medicine

Bruce McEwen’s laboratory
Rockefeller University 

MedicalResearch.com: What is the background for this study?

Dr. Pereira: The neurons most susceptible to dying in Alzheimer’s disease are the ones that use glutamate as a neurotransmitter (chemical messengers that enable neurotransmission). Glutamate is the major excitatory neurotransmitter in the brain and its regulation is critical for learning and memory.

When glutamate is not located in the correct place and amount, it causes several deleterious effects to neurons that can ultimately lead to cell death. Importantly, the glutamate transporter EAAT2 is the dominant regulator of glutamate levels and it is highly depressed in Alzheimer’s disease. Furthermore, glutamatergic dysregulation is implicated in several pathological mechanisms in Alzheimer’s disease including the release and toxicities of the proteins implicated in Alzheimer’s disease: amyloid-beta (which form amyloid plaques) and tau (which form neurofibrillary tangles).

Better regulation of glutamatergic neural circuits is critically important to effectively treat age-related cognitive decline and Alzheimer’s disease.

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Environmental Neurotoxins Found To Cause Alzheimer-Like Brain Tangles

More on Alzheimer’s Disease on MedicalResearch.com

MedicalResearch.com Interview with:
Sandra Anne Banack

Institute for Ethnomedicine
Jackson Hole, WY

Medical Research: What is the background for this study? What are the main findings?

Response: Villagers from the island of Guam had 50-100x the incidence rates of ALS when compared with Western populations. Although the disease on Guam  was first identified as ALS it is now known as ALS/PDC because it can also have clinical features of Parkinson’s and Alzheimer’s diseases. The pathological features of this disease include brain tangles and amyloid plaques that are also the diagnostic features of Alzheimer’s disease.  We found that an environmental neurotoxin causes brain tangles and amyloid deposits in an animal model. This is the first time that brain tangles, known technically as neurofibrillary tangles, have been created in an animal model along with the amyloid deposits. The animal model can be used to screen potential drugs for Alzheimer’s and potentially other neurodegenerative diseases quicker and at a fraction of the cost and risk of current methods using human subjects. In addition, we found that L-serine significantly reduced the formation of brain tangles exposed to this toxin.

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Stem Cell Derived Growth Factors May Slow Progression of ALS

Prof. Dimitrios Karussis M.D., Ph.D. Professor of Neurology Head, Multiple Sclerosis Center Hadassah BrainLabs

Prof. Dimitrios Karussis

MedicalResearch.com Interview with:
ProfDimitrios Karussis M.D., Ph.D.
Professor of Neurology
Head, Multiple Sclerosis Center
Hadassah BrainLabs

Medical Research: What is the background for this study? What are the main findings?

Prof. Karussis: BrainStorm Cell Therapeutics is developing innovative, autologous stem cell therapies for highly debilitating neurodegenerative diseases such as Amyotrophic Lateral Sclerosis (ALS), Multiple Sclerosis (MS), and Parkinson’s Disease (PD).  Our technology, NurOwn™ is a first-of-its-kind approach that induces autologous bone marrow-derived Mesenchymal Stem Cells (MSCs) to secrete Neurotrophic Growth Factors (NTFs).  These MSC-NTF cells have been shown to be protective in several animal models of neurodegenerative diseases.

Data from the clinical trials described in the recent issue of the Journal of American Medicine – Neurology (JAMA Neurology), suggest that NurOwn can help patients with ALS.  The two trials featured in the article, a phase 1/2 and a phase 2a, studied the transplantation NurOwn cells in ALS patients.  These trials confirmed the excellent safety profile of NurOwn and suggest a clinically meaningful effect. The investigators used two well established clinical endpoints that measure disease activity in ALS, the Revised ALS Functional Rating Scale and Forced Vital Capacity, and were able demonstrate a slowing of disease activity in the period following treatment.

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Mayo Researchers Develop Mouse Model To Study ALS and Frontotemporal Dementia

Dr. Leonard Petrucelli Ph.D Mayo Clinic Jacksonville, FL 32224MedicalResearch.com Interview with:
Dr. Leonard Petrucelli Ph.D
Mayo Clinic
Jacksonville, FL 32224

MedicalResearch: What is the background for this study?

Dr. Petrucelli: According to the ALS Association, more than 30,000 Americans live with amyotrophic lateral sclerosis (ALS), a condition that destroys motor neuron cells that control essential muscle activity such as speaking, walking, breathing and swallowing. After Alzheimer’s disease, frontotemporal dementia (FTD) is the most common form of early onset dementia. It is characterized by changes in personality, behavior, and language due to loss of neurons in the brain’s frontal lobe. Once considered rare, frontotemporal dementia is now thought to account for up to 10 to 15 percent of all dementia cases, according to the Alzheimer’s Association.

In 2011, Mayo investigator Rosa Rademakers, Ph.D., identified the most common genetic mutation known to cause ALS and FTD, namely a repeat expansion in the gene C9ORF72. The C9ORF72 repeat expansion leads to the generation of toxic RNA species that form abnormal foci, as well as inclusions of c9RAN proteins in affected cells in the central nervous system. Prior to this research study lead by Leonard Petrucelli, Chair of the Department of Neuroscience at the Mayo Clinic Florida, no animal model existed that fully recapitulated the known clinicopathological features of what is now collectively referred to as c9FTD/ALS. Without such an animal it has remained difficult to identify important mechanisms by which the repeat expansion leads to neurodegeneration and putative therapeutic targets that may mitigate disease in patients where currently there are no curative treatments.

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Long Term ACEIs May Reduce Risk of ALS

MedicalResearch.com Interview with:
Charles Tzu Chi Lee, PhD

Associate Prof., Department of Public Health
Kaohsiung Medical University, Kaohsiung, Taiwan
Sanmin District, Kaohsiung City Taiwan

Medical Research: What is the background for this study? What are the main findings?

Dr. Lee: Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disease and most patients die within three to five years after symptoms appear. Studies have suggested angiotensin-converting enzyme inhibitors (ACEIs) may decrease the risk for developing neurodegenerative diseases. But there was still no human study discussing ACEIs use and ALS risk in literature. The study results indicate that when compared with patients who did not use ACEIs, the risk reduction was 17 percent (adjusted odds ratio of 0.83) for the group prescribed ACEIs lower than 449.5 cumulative defined daily dose (cDDD) and 57 percent (adjusted odds ratio 0.43) for the group prescribed ACEIs greater than 449.5 cDDD.

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ALS Amyotrophic Lateral Sclerosis: FDG-PET as Marker of Cerebral Involvement

Prof. Dr. Philip Van Damme, MD, PhD Neuromuscular Reference Center, Neurology Department, University Hospitals Leuven Vesalius Research Center, VIB, Leuven Leuven Institute of Neurodegenerative Disorders (LIND) KU Leuven, BelgiumMedicalResearch.com Interview with:
Prof. Dr. Philip Van Damme, MD, PhD
Neuromuscular Reference Center, Neurology Department, University Hospitals Leuven
Vesalius Research Center, VIB, Leuven
Leuven Institute of Neurodegenerative Disorders (LIND)
KU Leuven, Belgium

MedicalResearch.com: What are the main findings of the study?

Prof: Van Damme: Earlier FDG-PET studies carried out in the 80’ties already pointed out that patients with ALS had decrease glucose uptake in the brain that is more extended than the motor cortex, at least at the group level. Of course, this imaging technique has been improved since then.

We prospectively assessed the diagnostic and prognostic value of FDG-PET in patients that were referred to us because a diagnosis of ALS was suspected.

The most important finding of our study probably is that FDG-PET shows perirolandic and variable frontotemporal hypometabolism in most patients with ALS at the first presentation in our clinic. It suggests that FDG-PET is a very sensitive marker of cerebral involvement in ALS, which has a high sensitivity at the single patient level.

In addition our study revealed that the co-occurrence of extensive prefrontal or anterior temporal hypometabolism was present in about 10% of patients and had a negative effect on survival after disease onset.
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A gene for Lou Gehrig’s disease and frontotemporal dementia identified

Frontotemporal dementia and amyotrophic lateral sclerosis, also known as Lou Gehrig’s disease — two fatal neurodegenerative disease with distinct symptoms — are triggered by a common mutation in many cases, according to researchers who say they have identified the mutated gene.

In the study, reported in the September 21 online issue of Neuron, the scientists described the discovery of a genetic mutation that is accountable for almost 12 percent of familial FTD and more than 22 percent of familial ALS samples studied.

They also report that the defect is the strongest genetic risk factor found to date for the more common, non-inherited, sporadic forms of these diseases. It was found in 3 percent of sporadic FTD and 4 percent of sporadic ALS samples in the largest clinical patient series.

The study was led by scientists at the Mayo Clinic in Florida, in collaboration with researchers at UCSF, the University of British Columbia and UCLA. The finding emerged from the identification and study of a family stricken by both ALS and FTD, reported last year. In that study, led by the UCSF scientists and published in the Journal of Neurology, Neurosurgery and Psychiatry, the researchers honed in on the region in which the gene was located.

“Both clinically and at the molecular level this discovery is going to significantly improve our understanding of these diseases,” said co-author Adam Boxer, MD, PhD, of the UCSF Memory and Aging Center, the lead author on the 2010 paper. The discovery makes it possible to develop a diagnostic test for the mutation, as well as to create animal models that may be used to help unravel the molecular mysteries connecting the mutation to the diseases, he said.

In the current study, a detailed molecular genetic characterization of the family that Boxer described was done in the laboratory of senior author Rosa Rademakers, PhD, from the Mayo Clinic. She and colleagues identified the gene and the specific mutation within it.

The mutation consists of from hundreds to thousands of extra copies of a six-letter DNA sequence GGGGCC strung end to end within a region of human chromosome nine. The mutation occurs within a gene of unknown function called C9ORF72.

After identifying the mutation, the Mayo researchers searched for it in DNA from other patients with both familial and sporadic forms of the diseases, where they found the strong associations.

FTD is characterized by disturbances in decision making, language skills, behavior and emotional expression, and is as common as Alzheimer’s disease in people younger than 65, according to Boxer. ALS is a neuromuscular disease, leading to muscle paralysis and respiratory failure, often within three to five years. However, it is not unusual for patients diagnosed with one of the two diseases to exhibit symptoms of the other.

Since 2006, six separate groups have reported evidence for a genetic link between the disorders and the same chromosomal region. In the study led by Boxer last year, the researchers described clinical aspects of the disease within the family, and homed in more closely to the gene than others had.

The pattern of protein deposition in the brains of family members in the study may eventually shed light on common aspects of the neurodegenerative process that occurs in both diseases, Boxer said.

There is only one standard medical treatment for ALS, riluzole, which extend life for about six months, he said.

There is no known effective treatment to slow FTD. However, neurologists have generally become much better at recognizing the degenerative disorder, according to Boxer.

Boxer and Bruce Miller, MD, the director of the UCSF Memory and Aging Center and a co-author of both studies, are leaders in FTD research, diagnosis and patient care.

“Ten years ago some neurologists did not acknowledge the existence of FTD,” Boxer says. “Today we are much better at diagnosing the disease, although sometimes it still takes an expert to distinguish it from Alzheimer’s or from psychiatric disorders.

“We’re actively trying to develop treatments for FTD, and we believe this discovery will pave the way for major advances in these efforts.”

The researchers used a technique called linkage analysis to narrow the search for the gene by comparing affected and unaffected family members. Another group of scientists — reporting in the same online edition of Neuron on the same gene — found that C9ORF72 emerged as being significantly associated with FTD and ALS in a genome-wide scan of patients in Finland.

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The Mayo portion of the study was funded by the National Institutes of Health and the ALS association (ALSA). The UCSF portion was funded by the NIH, the John Douglas French Foundation; the Hellman Family Foundation and the Tau Research Consortium and the Larry Hillblom Foundation and the state of California.