Confirmation of the severe phenotypic effect of serine at codon 41 of the superoxide dismutase 1 gene.

Introduction: A Gly41Ser mutation in the superoxide dismutase 1 gene (SOD1) has been reported to cause a very rapid course of amyotrophic lateral sclerosis (ALS) in a limited number of Italian patients, but a Gly41Asp mutation results in a more benign course.

Methods: Four members of an African American family with autosomal dominant ALS were evaluated clinically over 12 years. Mutation analysis of SOD1 was done on 1 patient.

Novel CACNA1A mutation causes febrile episodic ataxia with interictal cerebellar deficits.

Episodic ataxia type 2 (EA2) is a dominantly inherited disorder, characterized by spells of ataxia, dysarthria, vertigo, and migraines, associated with mutations in the neuronal calcium-channel gene CACNA1A. Ataxic spells lasting minutes to hours are provoked by stress, exercise, or alcohol. Some patients exhibit nystagmus between spells and some develop progressive ataxia later in life.