title: An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myoclonia: a probable ataxia telangiectasia variant.
abstract: We report a family of 4 siblings from a non-consanguineous marriage, presenting with an early onset recessive cerebellar ataxia and progressive distal limb wasting. Ocular or other telangiectasias were absent. There were neither frequent infections nor immunodeficiencies. The two youngest patients exhibited an incapacitating myoclonus which abated markedly after 20 years. Late onset diabetes was demonstrated in 3 patients. Hypogonadism was not a feature and there was a prolonged survival in the 4 patients. The oldest sibling died of a pancreatic adenocarcinoma. alpha-Fetoprotein was elevated with normal carcinoembryonic antigen values in three patients. Cytogenetic analysis and radioresistant DNA synthesis was compatible with the diagnosis of ataxia-telagiectasia. This family probably represents a rare variant of ataxia-telangiectasia.
authors.affiliation: Department of Medicine, Tygerberg Hospital, Republic of South Africa.
authors.forename: A S
authors.initials: AS
authors.lastname: de Graaf
authors.forename: G
authors.initials: G
authors.lastname: de Jong
authors.forename: W J
authors.initials: WJ
authors.lastname: Kleijer
mesh_terms: D000230:Adenocarcinoma / Q000175:diagnosis / Q000235:genetics; D000328:Adult; D000690:Amyotrophic Lateral Sclerosis / Q000175:diagnosis / Q000235:genetics*; D001260:Ataxia Telangiectasia / Q000175:diagnosis / Q000235:genetics*; D001264:Athetosis / Q000175:diagnosis / Q000235:genetics; D002819:Chorea / Q000175:diagnosis / Q000235:genetics; D002869:Chromosome Aberrations / Q000175:diagnosis / Q000235:genetics; D025063:Chromosome Disorders; D004261:DNA Replication / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000175:diagnosis / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D007360:Intelligence / Q000235:genetics; D008297:Male; D008875:Middle Aged; D009207:Myoclonus / Q000175:diagnosis / Q000235:genetics*; D009460:Neurologic Examination; D010190:Pancreatic Neoplasms / Q000175:diagnosis / Q000235:genetics; D010641:Phenotype; D013132:Spinocerebellar Degenerations / Q000175:diagnosis / Q000235:genetics*