Motor Neuron Disease

Motor Neuron Disease including Amyotrophic Lateral Sclerosis  

Motor Neuron Disease (MND) classifies a group of disorders that affect muscle activity. Motor neurons, which are responsible for transmitting signals from the nervous system to muscles, are impaired in this class of disorders. Motor neuron impairment can cause problems in tasks involving muscle function such as walking, swallowing and breathing. These diseases are degenerative and the extent of symptoms associated with MND varies, as does age of onset, prognosis, and the risk of fatality.

The NINDS Repository MND collection includes biomaterials from subjects with Amyotrophic Lateral Sclerosis (ALS, or Lou Gehrig’s Disease), Progressive Muscular Atrophy, Primary Lateral Sclerosis and Progressive Bulbar Palsy. The Repository also banks subjects with MNDs that have known genetic causes, including Spinal Bulbar Muscular Atrophy (Kennedy’s Disease) and Spinal Muscular Atrophy. Also included in the collection are unaffected (“At Risk”) and affected blood relatives of subjects, spouses (spousal controls), and normal healthy individuals (including population and convenience controls).

Disease Sub-Collection at a Glance

Search the Collection

• Samples by diagnosis
• Samples by family
• Mutations that cause Motor Neuron Diseases
• Motor Neuron Diseases subjects that tested wild-type for known genes
• Samples in DNA Panels
• Unaffected primary blood relatives of individuals with Motor Neuron Diseases

Ordering

Acknowledgement Guidelines 

Submission Information

• Required Clinical Data Elements for subjects with Motor Neuron Diseases(CDEs) and Clinical Data Elements (CDEs) for Motor Neuron Diseases Data Dictionary

References for ALS Criteria

• Airlie House Guidelines Therapeutic Trials in Amyotrophic Lateral Sclerosis
• El Escorial World Federation of Neurology Criteria for the Diagnosis of Amyotrophic Lateral Sclerosis

Links

• Federal Policy for the Protection of Human Subjects
• ALS-PLS Research Foundation
• ALS Association
• Families of Spinal Muscular Atrophy
• Kennedy's Disease Association
• Motor Neurone Disease Association
• National Organization for Rare Disorders
• NINDS Amyotrophic Lateral Sclerosis Information Page
• NINDS Motor Neuron Diseases Information Page
• Spinal Muscular Atrophy Foundation
• World Federation of Neurology Amyotrophic Lateral Sclerosis

References and Selected Reading

1. Dupre N, Valdmanis PN, Bouchard JP, Rouleau GA. Autosomal dominant primary lateral sclerosis. Neurology. 2007 Apr 3;68(14):1156-7. PMID: 17404201
2. Fischbeck KH, Lieberman A, Bailey CK, Abel A, Merry DE. Androgen receptor mutation in Kennedy's disease. Philos Trans R Soc Lond B Biol Sci. 1999 Jun 29;354(1386):1075-8. PMID: 10434308
3. Pasinelli P, Brown. RH. Molecular biology of amyotrophic lateral sclerosis: insights from genetics. Nat Rev Neurosci. 2006 Sep;7(9):710-23. PMID: 16924260
4. Pradat PF, Bruneteau G. [Differential diagnosis and atypical subsets of amyotrophic lateral sclerosis] Rev Neurol (Paris). 2006 Jun;162 Spec No 2:4S81-4S90. PMID: 17128093
5. Qureshi MM, Hayden D, Urbinelli L, Ferrante K, Newhall K, Myers D, Hilgenberg S, Smart R, Brown RH, Cudkowicz ME. Analysis of factors that modify susceptibility and rate of progression in amyotrophic lateral sclerosis (ALS). Amyotroph Lateral Scler. 2006. Sep;7(3):173-82. PMID: 16963407
6. Schymick JC, Scholz SW, Fung HC, Britton A, Arepalli S, Gibbs JR, Lombardo F, Matarin M, Kasperaviciute D, Hernandez DG, Crews C, Bruijn L, Rothstein J, Mora G, Restagno G, Chio A, Singleton A, Hardy J, Traynor BJ. Genome-wide genotyping in amyotrophic lateral sclerosis and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol. 2007 Apr;6(4):322-8. PMID: 17362836
7. Tartaglia MC, Rowe A, Findlater K, Orange JB, Grace G, Strong MJ. Differentiation between primary lateral sclerosis and amyotrophic lateral sclerosis: examination of symptoms and signs at disease onset and during follow-up. Arch Neurol. 2007 Feb;64(2):232-6. PMID: 17296839
8. Traynor BJ, Codd MB, Corr B, Forde C, Frost E, Hardiman OM. Clinical features of amyotrophic lateral sclerosis according to the El Escorial and Airlie House diagnostic criteria: A population-based study. Arch Neurol. 2000 Aug;57(8):1171-6. PMID: 10927797
9. Visser J, van den Berg-Vos RM, Franssen H, van den Berg LH, Wokke JH, de Jong JM, Holman R, de Haan RJ, de Visser M. Disease course and prognostic factors of progressive muscular atrophy. Arch Neurol. 2007 Apr;64(4):522-8. PMID: 17420313

For questions please contact the NINDS Repository team at NINDS@coriell.org