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Juvenile amyotrophic sclerosis (ALS4)
Disease characteristics:
Juvenile amyotrophic lateral sclerosis (ALS4) is a rare autosomal dominant form of juvenile amyotrophic lateral sclerosis (ALS) characterized by distal muscle weakness and atrophy, normal sensation, and pyramidal signs. Individuals affected with ALS4 usually have onset of symptoms at age <25 years, slow rate of progression, and normal life span. Dominant mutations of the senataxin gene (SETX) on chromosome 9q34 have been found in ALS4. SETX encodes a novel DNA/RNA helicase. Some mutations in SETX lead to ataxia with oculomotor apraxia type 2 (AOA2).
Test: DNA extraction, PCR, DNA sequencing of of the entire SETX coding sequence (26 exons).
