✦ LIBER ✦

Inherited myoclonus-dystonia and epilepsy: Further evidence of an association?

✍ Scribed by Sean O'Riordan; Laurie J. Ozelius; Patricia De Carvalho Aguiar; Michael Hutchinson; Mary King; Tim Lynch

Publisher: John Wiley and Sons
Year: 2004
Tongue: English
Weight: 66 KB
Volume: 19
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.20224

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Epilepsy and electroencephalogram (EEG) abnormalities have been considered exclusion criteria for the clinical diagnosis of myoclonus‐dystonia (M‐D). We report on the second M‐D family in which several clinically affected ϵ‐sarcoglycan gene (SGCE) mutation carriers have seizures in addition to myoclonus and dystonia, adding to the evidence that epilepsy and EEG abnormalities may form part of the phenotypic spectrum of the condition. A nonsense mutation in exon 3 (289C→T) of SGCE resulting in the insertion of a premature stop codon (R97X) was detected in affected members of this family. © 2004 Movement Disorder Society

📜 SIMILAR VOLUMES

Genetic evidence for an association of t

Genetic evidence for an association of the TOR1A locus with segmental/focal dystonia

✍ Nutan Sharma; Ramon A. Franco Jr.; John K. Kuster; Adele A. Mitchell; Tania Fuch 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 69 KB 👁 1 views

## Abstract Polymorphisms in the TOR1A/TOR1B region have been implicated as being associated with primary focal and segmental dystonia. In a cohort of subjects with either focal or segmental dystonia affecting the face, larynx, neck, or arm, we report a strong association of a single nucleotide pol

Further evidence for an association of t

Further evidence for an association of the Paraoxonase 1 (PON1) Met-54 allele with Parkinson's disease

✍ Andrea Carmine; Silvia Buervenich; Olof Sydow; Maria Anvret; Lars Olson 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 54 KB 👁 1 views

Paraoxonase1 (PON1) is an arylesterase mainly expressed in the liver that hydrolyzes organophosphates such as pesticides, reported risk factors for Parkinson's disease (PD), and other neurotoxins. A Leu-Met 54 polymorphism in the gene for PON1-affecting enzyme activity was recently shown, employing

Mortality of a cohort of men in a silico

Mortality of a cohort of men in a silicosis register: Further evidence of an association with lung cancer

✍ Tze Pin Ng; Shiu Lun Chan; James Lee 📂 Article 📅 1990 🏛 John Wiley and Sons 🌐 English ⚖ 616 KB

PARK2 copy number aberrations in two chi

PARK2 copy number aberrations in two children presenting with autism spectrum disorder: Further support of an association and possible evidence for a new microdeletion/microduplication syndrome

✍ Angela Scheuerle; Kathleen Wilson 📂 Article 📅 2011 🏛 John Wiley and Sons 🌐 English ⚖ 484 KB 👁 2 views