Ataxia-Deafness-Retardation Syndrome in Three Sisters

Abstract

Three sisters aged 16, 12 and 8 years from a consanguineous family presented with a progressive spinocerebellar ataxia combined with moderate mental retardation, progressive sensorineural hearing loss and signs of both upper and lower motor neuron disease. The patients represent the only known cases of the ataxia-deafness-retardation syndrome (McKusick # 20885) except for the three brothers in the original description by Berman et al (1973). In the family described here transmission of the disease appears to be linked with occurrence of red hair colour.

In the majority of patients with progressive hereditary ataxias a classification of the disease according to a known metabolic defect is not yet possible. However, the assignment of patients to a well defined clinical syndrome on the basis of clinical and laboratory data and the mode of inheritance not only serves a pure scientific interest, but may be helpful in counselling the patients and their families on prognosis and recurrence risk, as well as in decisions on therapeutic measures.

Berman et al (1973) reported on a progressive spinocerebellar ataxia with deafness, mental retardation, and signs of upper and lower motor neuron disease in three brothers of a black American family (ataxia-deafness-retardation syndrome, McKusick # 20885). To our knowledge no other patients with this disorder have been described. We observed three sisters from a consanguineous Turkish family with a progressive ataxia occuring in the first decade of life, moderate mental retardation and progressive hearing loss.

Key words

Hereditary ataxia - Hearing loss - Mental retardation - Autosomal recessive disorders