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dbGaP Study Description: The National Institute of Neurological Disorders and Stroke (NINDS) Human Genetics Resource Center: DNA and Cell Line Repository (the NINDS Repository): Motor Neuron/Amyotrophic Lateral Sclerosis (ALS) Study
dbGaP Study Detail Description: The National Institute of Neurological Disorders and Stroke (NINDS) Human Genetics Resource Center: DNA and Cell Line Repository (the NINDS Repository), banks phenotypic data and biological samples, including from individuals with motor neuron disease, in order to facilitate gene discovery in neurological disorders. Those samples are used in a number of studies, and genotyping data from studies using this resource are encouraged to be shared via dbGaP. Many studies have already shared data in this fashion, which in turn, can be linked back to the biologicals banked at the NINDS Repository. Motor Neuron Disease is characterized by selective degeneration of the motor neurons of the spinal cord, brainstem, or motor cortex. Clinical subtypes are distinguished by the major site of degeneration. In Amyotrophic Lateral Sclerosis (ALS), there is involvement of upper, lower, and brainstem motor neurons. In progressive muscular atrophy and related syndromes, the motor neurons in the spinal cord are primarily affected. With progressive bulbar palsy, the initial degeneration occurs in the brainstem. In primary lateral sclerosis, the cortical neurons are affected in isolation (Adams et al, Principles of Neurology, 6th ed, p 1089). The Motor Neuron Disease Collection of DNA and cell lines in the NINDS Repository is largely Amyotrophic Lateral Sclerosis cases (others include progressive muscular atrophy, primary lateral sclerosis, progressive bulbar palsy, Kennedy's disease). Amyotrophic lateral sclerosis (ALS) is the most common form of motor neuron disease (MND). Although ALS is the most common MND, it is still a relatively rare disease with an incidence of around 1.6 per 100,000 in the United States. It is currently incurable and treatment is largely limited to supportive care. Family history is associated with an increased risk of ALS, and many Mendelian causes have been discovered (including SOD1). However, most forms of the disease are not obviously familial. It is suspected that the sporadic forms of neurodegenerative disorders are caused by multiple genetic variants that individually make relatively weak contributions to risk. There is also an associated Control collection (see dbGaP and Coriell). Studies in motor Neuron Disease may use cases from the NINDS repository, controls from the NINDS repository, as well as cases, and controls, from other sources. A subset of subjects from The National Institute of Neurological Disorders and Stroke (NINDS) Human Genetics Resource Center: DNA and Cell Line Repository (the NINDS Repository): Motor Neuron/Amyotrophic Lateral Sclerosis (ALS) Study was utilized in the Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data study.
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Catalog IDDiagnosisCell TypeRaceAgeGenderAffected
ND04051AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1B-LymphocyteCaucasian44 YRMaleYes
ND04052AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1B-LymphocyteCaucasian74 YRFemaleYes
ND04054AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1B-LymphocyteCaucasian49 YRMaleYes
ND04055AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1B-LymphocyteCaucasian44 YRFemaleYes
ND04056AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1B-LymphocyteCaucasian55 YRMaleYes
ND04058AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1B-LymphocyteAsian42 YRMaleYes
ND04059AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1B-LymphocyteCaucasian51 YRMaleYes
ND04060AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1B-LymphocyteCaucasian38 YRMaleYes
ND04064AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1B-LymphocyteCaucasian49 YRMaleYes
ND06170AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1B-LymphocyteCaucasian55 YRMaleYes
ND06171AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1B-LymphocyteCaucasian41 YRFemaleYes
ND06173AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1B-LymphocyteCaucasian45 YRMaleYes
ND06174AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1B-LymphocytePacific Islander60 YRMaleYes
ND06175AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1B-LymphocyteCaucasian56 YRMaleYes
ND06176AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1B-LymphocyteCaucasian38 YRMaleYes
ND06177AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1B-LymphocyteCaucasian66 YRMaleYes
ND06178AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1B-LymphocyteCaucasian64 YRMaleYes
ND06179AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1B-LymphocyteCaucasian72 YRMaleYes
ND06180AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1B-LymphocyteCaucasian40 YRMaleYes
ND06181AMYOTROPHIC LATERAL SCLEROSIS 1; ALS1B-LymphocyteCaucasian65 YRFemaleYes