Evaluation of SCN8A as a candidate gene for autosomal dominant essential tremor.

Parkinsonism & Related Disorders
Lisa M SharkeyMiriam H Meisler

Abstract

Essential tremor (ET) is a common inherited movement disorder whose causes remain unknown. The presence of spontaneous tremor in murine mutants may provide clues into the pathogenesis of ET. SCN8A encodes the neuronal voltage gated sodium channel Na(v)1.6 that is widely expressed in the central nervous system. Several mutations of Scn8a in the mouse result in congenital postural tremor of the extremities and head. We screened SCN8A as a candidate gene in a cohort of 95 Caucasian patients with ET and a positive family history, including 48 patients with early onset in the first two decades of life. Early and adult onset ET subgroups did not differ in disease severity, but early onset patients had longer disease duration. Observed sequence variants were also screened in an ethnically matched control group. We did not detect SCN8A mutations affecting amino acid sequence or splice sites in our cohort of ET patients. Although mutations of Scn8a cause congenital tremor in mice, mutations in the sequence of the exons and splice sites of human SCN8A do not appear to be a common cause of autosomal dominant essential tremor in Caucasian patients.

References

Aug 3, 2005·The Journal of Clinical Investigation·Miriam H Meisler, Jennifer A Kearney
Feb 9, 2006·Human Molecular Genetics·Jennifer A KearneyWayne N Frankel
Mar 15, 2006·Neuroscience Letters·Hao DengJoseph Jankovic
May 25, 2006·Movement Disorders : Official Journal of the Movement Disorder Society·Shaochun MaPeter Hedera
Sep 23, 2006·Movement Disorders : Official Journal of the Movement Disorder Society·Elan D Louis, Ruth Ottman
Mar 14, 2007·Brain : a Journal of Neurology·Hao DengJoseph Jankovic
Nov 21, 2007·Brain : a Journal of Neurology·Elan D LouisNora Hernandez
Mar 5, 2008·Parkinsonism & Related Disorders·Marcia A BlairPeter Hedera

❮ Previous
Next ❯

Citations

Nov 14, 2008·The Journal of Neuroscience : the Official Journal of the Society for Neuroscience·William A CatterallDaniela Pietrobon
Dec 15, 2015·The Cerebellum·Adrian Handforth
May 21, 2013·Acta Neurologica Scandinavica·F J Jiménez-JiménezJ A G Agúndez
Jun 2, 2015·Frontiers in Neurology·Jacy L Wagnon, Miriam H Meisler
Jun 26, 2009·Current Opinion in Neurology·Jan Raethjen, Günther Deuschl
Jan 7, 2020·Epilepsia·Miriam H Meisler
Dec 11, 2019·Expert Reviews in Molecular Medicine·Hao DengJoseph Jankovic
Oct 6, 2020·Frontiers in Pharmacology·Luis Felipe Santos MenezesElisabeth Ferroni Schwartz
Feb 4, 2021·Nature Reviews. Neuroscience·Miriam H MeislerWenxi Yu
Jun 3, 2021·Pharmaceuticals·Félix Javier Jiménez-JiménezJosé A G Agúndez

❮ Previous
Next ❯

Related Concepts

Related Feeds

Ataxias

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on different types of ataxias here.

Ataxias (MDS)

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

Ataxia

Ataxia is a neurological condition characterized by lack of voluntary coordination of muscle movements including loss of coordination, balance, and speech. Discover the latest research on ataxia here.

CREs: Gene & Cell Therapy

Gene and cell therapy advances have shown promising outcomes for several diseases. The role of cis-regulatory elements (CREs) is crucial in the design of gene therapy vectors. Here is the latest research on CREs in gene and cell therapy.

Related Papers

Movement Disorders : Official Journal of the Movement Disorder Society
Elena García-MartínFélix Javier Jiménez-Jiménez
Genesis : the Journal of Genetics and Development
Stephen I Levin, Miriam H Meisler
© 2022 Meta ULC. All rights reserved