Aggressive familial ALS with unusual brain MRI and a SOD1 gene mutation

We studied two sisters with rapidly progressing ALS starting at the ages of 46 and 48 years and leading to death after 14 months. Both fulfilled the El Escorial criteria for definite ALS and had marked upper motor neuron (UMN) predominance. Brain MRI, on fluid attenuation recovery (FLAIR) mode, show...

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Bibliographic Details
Published in:	Amyotrophic lateral sclerosis Vol. 11; no. 1-2; pp. 228 - 231
Main Authors:	Blumen, Sergiu C., Inzelberg, Rivka, Nisipeanu, Puiu, Carasso, Ralph L., Oved, Daniel, Aizenstein, Orna, Drory, Vivian E., Bergstrom, Christina, Andersen, Peter M.
Format:	Journal Article
Language:	English
Published:	England Informa UK Ltd 2010 Taylor & Francis
Subjects:	'Silent' A140A SOD1 mutation Amino Acid Substitution - genetics Amyotrophic Lateral Sclerosis - genetics Amyotrophic Lateral Sclerosis - pathology Brain - pathology Familial ALS Family Health Fatal Outcome Female Humans Magnetic Resonance Imaging Middle Aged MRI in ALS Pedigree Severity of Illness Index Siblings SOD1 mutation Superoxide Dismutase - genetics Superoxide Dismutase-1
ISSN:	1748-2968, 1471-180X, 1471-180X
Online Access:	Get full text
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