Article
No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patients.
Journal of neural transmission (Vienna, Austria : 1996) - 1 Jan 2001
Pigullo S, Di Maria E, Marchese R, Assini A, Bellone E, Scaglione C, Vitale C, Bonuccelli U, Barone P, Ajmar F, Martinelli P, Abbruzzese G, Mandich P
Abstract excerpt
Essential tremor (ET) is one of the most common movement disorders. However the pathogenesis is as yet unknown, although a genetic cause has long been recognised. Clinical and molecular evidences suggested that the ET gene might contain a CAG expanded region. In a cohort of Italian ET patients Repeat Expansion Detection (RED) approach did not demonstrate large CAG expansions. We extended the study towards...
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