Caratteristiche cliniche e molecolari della prima famiglia italiana identificata con atrofia dentatorubro-pallidoluysiana

Denattorubral-pallidoluysian atrophy (DRPLA) is a rare autosomal dominant neurodegenerative disorder with distinctive neuropathological features usually centered on the cerebellar and pallidal efferent pathways. Most of the DRPLA families have been observed in Japan, more rarely in America and North Europe. DRPLA is characterized by various combinations of ataxia, choreoathetosis, myoclonus, epilepsy and dementia. The basis of this pathological process has been recently identified in an unstable CAG trinucleotide repeat expansion in the DRPLA gene in the short arm of chromosome 12. We describe a 33-year old female with ataxia, intellectual decline, epilepsy, and choreoathetosis with an onset in the adult age, associated with a pathological expansion of the CAG triplet in the DRPLA gene. The presence of the same, although smaller, molecular lesion in her apparently healthy older brother is consistent with the diagnosi of hereditary DRPLA, excluding the possibility of a de novo mutation.