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Brain, Vol. 115, No. 6, 1647-1654, 1992
© 1992 Guarantors of Brain

research-article

AUTOSOMAL DOMINANT PURE CEREBELLAR ATAXIA

NEUROLOGICAL AND GENETIC STUDY

M. FRONTALI1, M. SPADARO2, P. GIUNTI2, F. BIANCO2, C. JODICE3, F. PERSICHETTI3, G. B. COLAZZA2, P. LULLI4, L. TERRENATO3 and C. MOROCUTTI2

1Institute di Medicina Sperimentale CNR Rome, Italy 2Istituto di Clinica delle Malattie Nervose e Mentali, Università La Sapienza Rome, Italy 3Dipartimento di Biologia, Università Tor Vergata Rome, Italy 4Dipartimento di Medicina Sperimentale, Università La Sapienza Rome, Italy

Correspondence to: Correspondence to: Dr Marina Frontali, Istituto di Medicina Sperimentale CNR, Via Marx 15, Rome 00137, Italy.

A family with late-onset autosomal dominant pure cerebellar ataxia was studied both neurologically and genetically. Neuroimaging and electrophysiological results were in agreement with the clinical evidence showing involvement of the cerebellar system only, even many years after onset. No atrophy of inferior olives was observed by magnetic resonance imaging, while cerebellar atrophy was extremely marked. A very slow disease progression was observed in all patients. The disease can be differentiated from autosomal dominant olivo-ponto-cerebellar atrophies, and in particular from spinocerebellar ataxia type 1 mapping on chromosome 6p, which shows an early multisystemic involvement and a more rapid progression toward inability. A genetic study of the family with the 6p DNA marker D6S89 closely linked to the spinocerebellar ataxia type 1 locus was performed. Results showed significant exclusion of a linkage between the disease and the marker within a distance of 8.5% recombination, indicating that genetic heterogeneity underlies phenotypic differences.

Received May 27, 1992. Accepted July 5, 1992.


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