Westphal Variant of Huntington's Disease

Abstract

A Westphal variant of Huntington's disease (HD) is an infrequent presentation of this inherited neurodegenerative disorder. Here, we describe a 14-year-old girl who developed symptoms at the age of 7, with molecular evidence of abnormally expanded Cytosine-Adenine-Guanine (CAG) repeats in exon 1 of the Huntingtin gene. We briefly review the classical features of this variant highlighting the importance of suspecting HD in a child with parkinsonism and a family history of movement disorder or dementia.

Coreia oromandibular como manifestação inicial de Doença de Huntington juvenil

“…Individuals with a CAG repeat length of >60 usually have JHD, and transmitting parent is frequently the father (~70-80% of cases) 4 . Although there are many similarities with the adult form of the disease, JHD has a clinically distinct presentation, as the pattern tends to be that the bradykinesia, dystonia, and parkinsonian features are prominent at an early stage, while chorea, if present, is less prominent 1,3 . On this case, nonetheless, the initial, longstanding, and predominant feature was chorea, initially oromandibular, and later progressing to the distal extremities.…”