Dentatorubropallidoluysian atrophy in a Spanish family: a clinical, radiological, pathological, and genetic study

The object was to describe the radiological, pathological, and genetic find ings in a Spanish family with dentatorubropallidoluysian atrophy (DRPLA). T his is an inherited neurodegenerative disease, well recognised in Japan, bu t with few cases reported from Europe and America and no cases published fr om Spain. The clinical misdiagnosis of Huntington's disease is not infreque nt. Pedigree analysis and clinical data of a family were collected. A genetic s tudy was performed in two patients, Pathological information was obtained f rom the necropsy of one patient. Results-Pedigree analysis showed an autosomal dominant pattern of inheritan ce. Age at onset varied from 5 to 55 years. Ataxia and chorea were present in most of the members. Some of these had a long course disease with late d ementia. Four patients had seizures and early mental impairment. In one pat ient, cranial MRI showed cortical, brain stem and cerebellar atrophy, and w hite matter changes, in another patient, necropsy showed atrophy of the glo bus pallidus and lipofuscin deposits in dentate and pallidal neuronal cells . Genetic study showed an abnormal CAG triplet expansion in the B37 gene on chromosome 12. As in other cases previously reported, Spanish cases of DRPLA show intrafam ilial phenotypic heterogeneity. Clinical and MRI data could differentiate D RPLA from Huntington's disease but definitive diagnosis requires molecular studies. Pathological studies are still necessary to correlate DRPLA brain involvement with the clinical and molecular findings.