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- Title
Particularităţi clinico-evolutive la 5 pacienţi cu boală Huntington.
- Authors
Popescu-Olaru, I.; Barsevschi, M.; Cozma, L.; Mitu, C.; Popescu, B. O.
- Abstract
Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system (CNS) characterized by progressive choreiform movements, psychiatric disturbances and cognitive Impairment leading to dementia. The disease is caused by a cytosine-adenine-guanine (CAG) trinucleotide repeat expansion in the huntingtin (HTT) gene on chromosome 4p that encodes the protein huntingtin. In spite of HTT's widely distribution throughout the brain and many other tissues, the pathology of MD appears to be limited to the CNS with a selective neuronal cell loss, the atrophy of the neostriatum being most prominent; MRI volume measurements suggest that striatal atrophy begins 9 to 20 years before the clinical diagnosis of h d . The disease is transmitted in an autosomal dominant manner, Occasionally, it is caused by a new HTT gene mutation in the affected individual. We report a series of 5 HD patients to describe the clinical presentation and progression features. The patients were referred to our clinic in different stages of evolution. The diagnosis was based on genetic testing. Full clinical neurologic examination and psychological assessment were performed. We describe 4 men and 1 woman, 2 of them had no family history compatible with this disease. The woman has a twin sister with no neurological or psychiatric complaints so far; no presymptomatic genetic screening was made. Three patients experienced the disease onset at the beginning of the third decade. The correlation of CAG repeat number with age of onset is similar to that seen in populations reported in literature.
- Publication
Romanian Journal of Neurology, 2017, Vol 16, p21
- ISSN
1843-8148
- Publication type
Article