An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myoclonia: A probable ataxia telangiectasia variant

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dc.contributor.authorDe Graaf A.S.
dc.contributor.authorDe Jong B G.
dc.contributor.authorKleijer W.J.
dc.date.accessioned2011-05-15T16:16:06Z
dc.date.available2011-05-15T16:16:06Z
dc.date.issued1995
dc.description.abstractWe 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-Fetoprotein 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.
dc.description.versionArticle
dc.identifier.citationClinical Neurology and Neurosurgery
dc.identifier.citation97
dc.identifier.citation1
dc.identifier.issn03038467
dc.identifier.other10.1016/0303-8467(94)00048-B
dc.identifier.urihttp://hdl.handle.net/10019.1/13633
dc.subjectalpha fetoprotein
dc.subjectcarcinoembryonic antigen
dc.subjectadult
dc.subjectarticle
dc.subjectataxia telangiectasia
dc.subjectcase report
dc.subjectcerebellum disease
dc.subjectchromosome analysis
dc.subjectdiabetes mellitus
dc.subjectdna replication
dc.subjectdna synthesis
dc.subjectfemale
dc.subjecthuman
dc.subjectmale
dc.subjectmuscle atrophy
dc.subjectmyoclonus
dc.subjectonset age
dc.subjectpancreas adenocarcinoma
dc.subjectsibling
dc.subjectAdenocarcinoma
dc.subjectAdult
dc.subjectAmyotrophic Lateral Sclerosis
dc.subjectAtaxia Telangiectasia
dc.subjectAthetosis
dc.subjectCase Report
dc.subjectChorea
dc.subjectChromosome Aberrations
dc.subjectChromosome Disorders
dc.subjectDiabetes Mellitus, Non-Insulin-Dependent
dc.subjectDNA Replication
dc.subjectFemale
dc.subjectGenes, Recessive
dc.subjectHuman
dc.subjectIntelligence
dc.subjectMale
dc.subjectMiddle Age
dc.subjectMyoclonus
dc.subjectNeurologic Examination
dc.subjectPancreatic Neoplasms
dc.subjectPhenotype
dc.subjectSpinocerebellar Degenerations
dc.titleAn early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myoclonia: A probable ataxia telangiectasia variant
dc.typeArticle
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