Document Detail

Autosomal dominant juvenile amyotrophic lateral sclerosis.
MedLine Citation:
PMID:  10430837     Owner:  NLM     Status:  MEDLINE    
Juvenile amyotrophic lateral sclerosis (ALS) is a form of chronic motor neuron disease characterized by combined upper and lower motor neuron symptoms and signs with onset prior to age 25 years. We report the clinical and electrodiagnostic findings in 49 affected family members and neuropathological findings from two autopsies of a Maryland kindred with autosomal dominant juvenile ALS linked to the chromosome 9q34 region (ALS4). Patients ranged in age from 12 to 85 years (mean 45 years) and the mean age of onset was 17 years. Distal weakness and atrophy was associated with pyramidal signs (43/49) and normal sensation (44/49). Motor conduction studies (n = 8) showed reduced evoked amplitudes and normal conduction parameters. Sensory conduction studies (n = 8), quantitative sensory testing (n = 4) and intracutaneous sensory fibres in skin biopsies (n = 6) were normal in all patients tested. Electromyography showed distal more than proximal chronic partial denervation and reinnervation (n = 8). Post-mortem spinal cord tissue demonstrated atrophic spinal cords with marked loss of anterior horn cells and degeneration of corticospinal tracts, as well as loss of neurons in the dorsal root ganglia and degeneration of the posterior columns. Axonal spheroids were present in the grey matter of the spinal cord, the dorsal root entry zones and the peripheral nerves. Motor and sensory roots, as well as peripheral nerves, showed significant axonal loss. Swellings were prominent around motor neurons, probably representing changes in presynaptic terminals. These studies define autosomal dominant juvenile ALS linked to the chromosome 9q34 region (ALS4) and extend the clinical, pathological and genetic heterogeneity of familial ALS and juvenile ALS.
B A Rabin; J W Griffin; B J Crain; M Scavina; P F Chance; D R Cornblath
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S.    
Journal Detail:
Title:  Brain : a journal of neurology     Volume:  122 ( Pt 8)     ISSN:  0006-8950     ISO Abbreviation:  Brain     Publication Date:  1999 Aug 
Date Detail:
Created Date:  1999-09-07     Completed Date:  1999-09-07     Revised Date:  2007-11-14    
Medline Journal Info:
Nlm Unique ID:  0372537     Medline TA:  Brain     Country:  ENGLAND    
Other Details:
Languages:  eng     Pagination:  1539-50     Citation Subset:  AIM; IM    
Departments of Neurology, Neuroscience and Pathology, Johns Hopkins University School of Medicine, Division of Neurology, Sinai Hospital, Baltimore, Maryland, USA.
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MeSH Terms
Age of Onset
Aged, 80 and over
Amyotrophic Lateral Sclerosis / genetics*,  pathology,  physiopathology*
Axons / pathology,  ultrastructure
Chromosome Mapping
Chromosomes, Human, Pair 9*
Genes, Dominant
Middle Aged
Motor Neurons / physiology
Muscle Denervation
Nerve Fibers / pathology,  physiology,  ultrastructure
Neural Conduction
Neurons, Afferent / physiology
Peripheral Nerves / pathology,  physiopathology
Skin / innervation,  pathology
Spinal Cord / pathology
Grant Support

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