Gene: [09q34/ALS4] amyotrophic lateral sclerosis 4 (autosomal dominant; juvenile);
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COM |
The ALS4 gene was found to link with D9S1847 (a lod score 18.8 at theta = 0.00) mapped to 9q34; analysis of recombinant events identified D9S1831 and D9S164 as flanking markers, defining an interval of approximately 5 cM that harbors the ALS4 gene (Chance-1998)." |
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PAT |
Affected persons typically manifested symptoms in the second decade of life (mean age 17 years). They initially had difficulty walking; this was followed by weakness and wasting of small muscles of the hands and distal lower limbs. By the fourth or fifth decade, affected persons had significant proximal weakness and were frequently wheelchair-bound, and by the sixth decade, they had lost useful hand function. Bulbar muscles were not symptomatically involved. Among 49 affected and 34 at-risk individuals. Forty-four of 49 subjects tested had normal sensory examinations; 5 older individuals (mean age, 51 years) had slight elevation of the vibratory threshold in the feet (Chance-1998)." |
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REF |
PAT,LOC,LIN,FOG "Chance PF &: AJHG, 62, N3, 633-640, 1998 PAT,FOG "Myrianthopoulos NC &: Brain, 87, 589-610, 1964 |
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KEY |
neu |
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CLA |
unknown, basic |
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LOC |
09 q34 |
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MIM |
MIM: 602433 |
