Attenuated presentation of ataxia-telangiectasia with familial cancer history

Abstract

JO N 2857 ing, generalized choreo-athetoid movements, spasmodic torticollis, writing tremor and myoclonic jerks. Examination also revealed cerebellar ataxia. The IQ was liminal. Neuroleptics, DL-hydroxytryptophan, trihexyphenidyl, and piribedil provided little or no improvement. By the age of 42, the patient was confined to a wheelchair, mainly due to the midline cerebellar disturbances. There was also limb ataxia, dystonia of the legs, torticollis and rest tremor. An ocular apraxia was noted without telangiectasia. Cognitive impairment had appeared with executive, judgement, reasoning and fixation memory troubles. Since age 16 a slowly worsening, predominantly sensory axonal neuropathy was known, whereas cerebral imaging showed global cerebellar atrophy. Standard blood tests, copper balance, vitamin E assay were normal. There was no evidence of metabolic or mitochondrial disorders. Genetic analysis excluded Friedreich’s disease, most frequent spinocerebellar ataxias, dentatorubropallidoluysian atrophy and Huntington’s disease. Igs serum level was normal. There was a slight rise in the serum level of αfetoprotein (AFP) (25.1 μg/L, Clemence Simonin David Devos Isabelle Vuillaume Berengere de Martinville Bernard Sablonniere Alain Destee Dominique Stoppa-Lyonnet Luc Defebvre