No evidence of association between CAG expansions and essential tremor in a large
cohort of Italian patients

Pigullo, S; Maria, Ed; Marchese, R; Assini, A; Bellone, E; Scaglione, C; Vitale, Carmine; Bonuccelli, U; Barone, P; Ajmar, F; Martinelli, P; Abbruzzese, G; Mandich, P.

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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 specific targets: the channel proteins hSKCa3 and CACNL1A4. Direct assessment of CAG stretches within these two genes did not demonstrate any CAG expansion in affected subjects. Also a case-control analysis failed to reveal any evidence of association, thus excluding these genes as a cause of ET

Titolo:	No evidence of association between CAG expansions and essential tremor in a large cohort of Italian patients
Autori:	PIGULLO S MARIA ED MARCHESE R ASSINI A BELLONE E SCAGLIONE C VITALE, Carmine BONUCCELLI U BARONE P AJMAR F MARTINELLI P ABBRUZZESE G MANDICH P. mostra contributor esterni nascondi contributor esterni
Data di pubblicazione:	2001
Rivista:	JOURNAL OF NEURAL TRANSMISSION
Abstract:	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 specific targets: the channel proteins hSKCa3 and CACNL1A4. Direct assessment of CAG stretches within these two genes did not demonstrate any CAG expansion in affected subjects. Also a case-control analysis failed to reveal any evidence of association, thus excluding these genes as a cause of ET
Handle:	http://hdl.handle.net/11367/21987
Appare nelle tipologie:	1.1 Articolo in rivista

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