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. α-Fetroprotein was elevated with normal carcinoembryonic antigen values in three patients. Cytogenetic analysis and radioresistant DNA synthesis was compatible with the diagnosis of ataxia-telangiectasia. This family probably represents a rare variant of ataxia-telangiectasia.

Ataxia-telangiectasia, Chromosome instability, DNA replication
dx.doi.org/10.1016/0303-8467(94)00048-B, hdl.handle.net/1765/64713
Clinical Neurology and Neurosurgery
Department of Clinical Genetics

de Graaf, A.S, de Jong, G, & Kleijer, W.J. (1995). An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myoclonia: A probable ataxia telangiectasia variant. Clinical Neurology and Neurosurgery, 97(1), 1–7. doi:10.1016/0303-8467(94)00048-B