Early onset parkinsonism.
نویسنده
چکیده
Early-onset parkinsonism refers to those patients with onset of a parkinsonian syndrome before age 40. These cases can be further subdivided into Young-onset (between ages 40 and 21) and Juvenile-onset (below age 21). In this review we will focus on the peculiar clinical features that distinguish these cases from classic late-onset parkinsonism, their characteristic response to medication, and their heterogeneous pathogenesis, including recent findings in the field of genetics that would suggest that a significant number of these patients are the result of genetic mutations.
منابع مشابه
parkin mutation dosage and the phenomenon of anticipation: a molecular genetic study of familial parkinsonism
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Parkin gene mutations are reported to be a major cause of early-onset parkinsonism (age at onset < or = 45 years) in families with autosomal recessive inheritance and in isolated juvenile-onset parkinsonism (age at onset <20 years). However, the precise frequency of parkin mutations in isolated cases is not known. In order to evaluate the frequency of parkin mutations in patients with isolated ...
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Although the role of genetic factors in the origin of Parkinson disease has long been disputed, several genes involved in autosomal dominant and recessive forms of the disease have been localized. Mutations associated with early-onset autosomal recessive parkinsonism have been identified in the Parkin gene, and recently a second gene, PARK6, involved in early-onset recessive parkinsonism was lo...
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BACKGROUND Parkinson's disease is a progressive neurodegenerative disorder, where most cases are sporadic with a late onset. In rare incidences familial forms of early-onset parkinsonism occur, and when recessively inherited, cases are often explained by mutations in either the parkin (PARK2) or PINK1 (PARK6) gene or on exceptional occasions the DJ-1 (PARK7) or ATP13A2 (PARK9) gene. Recessively...
متن کاملJuvenile-onset Parkinsonism as a result of the first mutation in the adenosine triphosphate orientation domain of PINK1.
BACKGROUND Mutations in the PTEN-induced putative kinase 1 (PINK1) gene at 1p36 have been involved in autosomal recessive early-onset parkinsonism. OBJECTIVE To describe the clinical and genetic features of the largest kindred reported to date with early-onset parkinsonism associated with the PINK1 gene. DESIGN Clinical and genetic study. SETTING Collaborative study. Patients Eight patien...
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ورودعنوان ژورنال:
- Frontiers in bioscience : a journal and virtual library
دوره 8 شماره
صفحات -
تاریخ انتشار 2003