background: amyotrophic lateral sclerosis (als) is the most common motor neuron disorder in european populations. als can be sporadic als (sals) or familial als (fals). among 20 known als genes, mutations in c9orf72 and superoxide dismutase 1 (sod1) are the most common genetic causes of the disease. whereas c9orf72 mutations are more common in western populations, the contribution of sod1 to al...

Amyotrophic lateral sclerosis, also known as Lou Gehrig’s disease, is a fatal disorder often overlooked by the public; nonetheless, during 1997 it killed twice as many Oregonians (78) as did sudden infant death syndrome (36), a more widely known disorder. The ageadjusted death rate1 for this disease has long been higher for Oregon than for the U.S., and during 1993-1996 ranked second highest na...

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Primary lateral sclerosis (PLS) is a diagnosis of exclusion in patients with progressive spinobulbar spasticity and could be part of the clinical spectrum of ALS. Unlike ALS, which is familial in 5 to 10% of the cases, PLS has been described as a sporadic disorder in adults. The authors report two patients with PLS from unrelated SOD1-negative familial ALS families. These observations provide f...

A recent meta-analysis of 7 genome-wide association studies on early balding (alopecia) revealed single nucleotide polymorphism variants in the region of the amyotrophic lateral sclerosis (ALS) gene TAR DNA-binding protein 43 (TARDBP/TDP-43 ). We therefore explored the association of early-onset alopecia and ALS in the Health Professionals Follow-up Study, a large cohort of 51,529 US men. In 19...

OBJECTIVE To determine the prevalence and correlates of neuropsychological impairment in a large cohort (n = 146) of patients with typical, sporadic (non-familial) amyotrophic lateral sclerosis. METHODS A battery of neuropsychological tests was administered to patients with amyotrophic lateral sclerosis who were attending a monthly outpatient clinic or who were in hospital undergoing diagnost...