𝔖 Bobbio Scriptorium
✦   LIBER   ✦

Clinicopathological phenotype of ALS with a novel G72C SOD1 gene mutation mimicking a myopathy

✍ Scribed by H.G. Stewart; I.R. Mackenzie; A. Eisen; T. Brännström; S.L. Marklund; P.M. Andersen

Publisher
John Wiley and Sons
Year
2006
Tongue
English
Weight
310 KB
Volume
33
Category
Article
ISSN
0148-639X

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

A 71‐year‐old woman with a family history of amyotrophic lateral sclerosis (ALS) was investigated for symmetrical, proximal limb and abdominal muscle weakness. Initial examination showed mild proximal muscle weakness in the arms and legs, slightly elevated serum creatine kinase (CK) level, and normal electromyographic (EMG) findings. A myopathy was the presumed diagnosis. Over the next year, weakness became severe and tendon reflexes became unelicitable; no upper motor signs were present. EMG then showed acute and chronic denervation and a muscle biopsy showed target fibers and grouped atrophy. DNA analysis revealed a G72C CuZn‐superoxide dismutase (SOD1) mutation. Fasciculations were absent throughout the disease. The patient died 53 months after symptom onset and autopsy revealed loss of lower motor neurons (LMN) and SOD1‐positive inclusions. This case expands the phenotypic spectrum of ALS associated with SOD1 mutations to include presenting features that mimic a myopathy. Muscle Nerve, 2006

📜 SIMILAR VOLUMES

Novel SOD1 N86K mutation is associated w
Novel SOD1 N86K mutation is associated with a severe phenotype in familial ALS
✍ Marcus Beck; Michael Sendtner; Klaus V. Toyka 📂 Article 📅 2007 🏛 John Wiley and Sons 🌐 English ⚖ 259 KB

## Abstract Familial amyotrophic lateral sclerosis (ALS) is frequently associated with mutations in the __SOD1__ gene. We identified a rapidly progressive disease in a patient with an inherited ALS. The identified heterozygous T>A exchange in position 1067 in the __SOD1__ gene results in an amino a

A novel mutation in exon b (R259C) of th
A novel mutation in exon b (R259C) of the MTM1 gene is associated with a mild myotubular myopathy
✍ Andrew Donnelly; Eric Haan; James Manson; John Mulley 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 62 KB 👁 2 views

The genetic basis of the relatively mild myopathic symptoms exhibited in a male was investigated. Mutation screening of a candidate gene, MTM1, represented a chance of establishing the molecular defect and the mode of inheritance. SSCA detected variation of the exon b PCR products from the proband a

Clinical phenotype of autosomal dominant
Clinical phenotype of autosomal dominant progressive external ophthalmoplegia in a family with a novel mutation in the C10orf2 gene
✍ Daojun Hong; Hongyan Bi; Sheng Yao; Zhaoxia Wang; Yun Yuan 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 268 KB

## Abstract Autosomal dominant progressive external ophthalmoplegia (adPEO) is a mitochondrial disorder caused by mutations in nuclear genes. Here we report the clinical and genetic features of adPEO in a Chinese family. All patients had gradual onset of ptosis, with or without ophthalmoplegia, aro

A novel mutation in the VCP gene (G157R)
A novel mutation in the VCP gene (G157R) in a german family with inclusion-body myopathy with paget disease of bone and frontotemporal dementia
✍ Atbin Djamshidian; Jochen Schaefer; Dietrich Haubenberger; Elisabeth Stogmann; F 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 115 KB 👁 1 views

## Abstract Mutations in the valosin‐containing protein (__VCP__) are known to cause autosomal‐dominant inclusion‐body myopathy with Paget's disease of bone and frontotemporal dementia (IBMPFD). We report a novel missense mutation (G157R) in the N‐terminal region of the __VCP__ gene in a German fam

A novel mutation in the neonatal region
A novel mutation in the neonatal region of the fibrillin (FBN) 1 gene associated with a classical phenotype of Marfan syndrome (MfS)
✍ Ulrich Grau; Hanns-Georg Klein; Christian Detter; Helmut Mair; Armin Welz; Dietr 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 71 KB 👁 3 views

Marfan Syndrome (MfS) is an autosomal dominant inherited connective tissue disorder with variable phenotypic expression of cardiovascular, skeletal and ocular manifestations. Cardiovascular complications, such as aortic aneurysm and dissection drastically reduce life expectancy of individuals with M