Article
An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myoclonia: a probable ataxia telangiectasia variant.
Clinical neurology and neurosurgery - 1 Feb 1995
de Graaf A S, de Jong G, Kleijer W J
Abstract excerpt
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 patient...
Topics
- Adenocarcinoma
- Adult
- Amyotrophic Lateral Sclerosis
- Ataxia Telangiectasia
- Athetosis
- Chorea
- Chromosome Aberrations
- Chromosome Disorders
- DNA Replication
- Diabetes Mellitus, Type 2
- Female
- Genes, Recessive
- Humans
- Intelligence
- Male
- Middle Aged
- Myoclonus
- Neurologic Examination