Limited corticospinal tract involvement in amyotrophic lateral sclerosis subjects with the A4V mutation in the copper/zinc superoxide dismutase gene

Annals of Neurology
M E CudkowiczR H Brown

Abstract

We examined 11 subjects with inherited amyotrophic lateral sclerosis (familial amyotrophic lateral sclerosis, FALS) associated with the most common copper/zinc superoxide dismutase 1 (SOD1) mutation, an alanine for valine substitution in codon 4 (A4V). Autopsies were performed on 5 subjects. The clinical and pathological findings are described and compared with those of 9 sporadic ALS (SALS) subjects. There was no clinical evidence of upper motor neuron (UMN) involvement in 10 FALS A4V subjects. All subjects had lower motor neuron (LMN) signs and electrophysiological evidence of denervation in at least three limbs. All SALS subjects had signs of both UMN and LMN involvement. Pathological studies found severe abnormalities of LMNs in all FALS and SALS subjects. UMN involvement was either absent or mild in the A4V SOD1 FALS subjects and severe in the SALS subjects. Pathological abnormalities in systems other than the motor neurons were more frequent in the FALS A4V subjects. This information suggests that current diagnostic criteria for ALS, requiring dinical evidence for both upper and lower motor neuron involvement, should be modified; ie, the diagnosis should be deemed established when there is evidence of denervation in three...Continue Reading

References

Sep 1, 1967·New York State Journal of Medicine·H Fleck, H B Zurrow
Jun 1, 1970·Journal of Neurology, Neurosurgery, and Psychiatry·B BrownellJ T Hughes
Jan 1, 1984·Acta Neuropathologica·J TanakaK Takahashi
Apr 6, 1995·Nature·R OrrellR Hallewell
Feb 1, 1994·Neurology·I RaineroD R McLachlan
Jun 1, 1996·Annals of Neurology·R W OrrellJ S de Belleroche
Mar 1, 1996·Neurología : publicación oficial de la Sociedad Española de Neurología·J Martí-Fàbregas, J Pradas
Aug 1, 1996·Journal of the Neurological Sciences·M E Cudkowicz, R H Brown
Dec 1, 1996·Journal of Neurology, Neurosurgery, and Psychiatry·A Radunovíc, P N Leigh
Feb 1, 1997·Annals of Neurology·M E CudkowiczR H Brown
Feb 1, 1953·A.M.A. Archives of Neurology and Psychiatry·T LAWYER, M G NETSKY

❮ Previous
Next ❯

Citations

Sep 12, 2000·Journal of the Neurological Sciences·L CervenakovaL G Goldfarb
Dec 14, 1999·Journal of the Neurological Sciences·R W OrrellJ S deBelleroche
Jan 23, 1999·Current Opinion in Neurobiology·P C WongD L Price
Jun 2, 2001·The New England Journal of Medicine·L P Rowland, N A Shneider
Feb 27, 2007·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Asao Hirano, Reika Wate
Nov 17, 2012·PloS One·Marka van BlitterswijkLeonard H van den Berg
Oct 15, 2014·Nature Reviews. Neurology·Bart Swinnen, Wim Robberecht
Jul 5, 2005·Expert Opinion on Investigational Drugs·M B Bromberg
Apr 23, 2008·Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases·Andrew EisenPeter M Andersen
Nov 28, 2006·Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases·Xin-Sheng WangJames R Connor
Nov 2, 2013·Neurologic Clinics·Matthew B Harms, Robert H Baloh
Feb 9, 2002·Annals of Neurology·Philippe CorciaUNKNOWN French ALS Research Group. Amyotrophic Lateral Sclerosis
Apr 19, 2011·Journal of the Neurological Sciences·Wonki BaekSeung Hyun Kim
Sep 11, 2007·Trends in Neurosciences·Diether LambrechtsPeter Carmeliet
Oct 31, 2015·Neurologic Clinics·Kevin Boylan
Jun 10, 2010·The European Journal of Neuroscience·André Bento-AbreuWim Robberecht
Jun 19, 2013·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Seika NakamuraHirofumi Kusaka
Aug 22, 2006·Journal of the Neurological Sciences·Stefano ZoccolellaUNKNOWN SLAP registry
Jun 24, 2006·Clinical Neurophysiology : Official Journal of the International Federation of Clinical Neurophysiology·Heather G StewartMarkus Weber
Mar 13, 2003·Clinical Genetics·D Majoor-KrakauerA Hofman
Aug 21, 2013·Neurobiology of Aging·Audrey DangoumauPatrick Vourc'h
Jun 15, 2010·Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases·Sadia YasserParveen Athar
Jul 13, 2016·Acta Neuropathologica Communications·Vincent Picher-MartelNicolas Dupré
Jun 5, 2016·Journal of Neurology, Neurosurgery, and Psychiatry·Taha BaliTimothy M Miller
Mar 9, 2017·Cold Spring Harbor Perspectives in Medicine·Mehdi Ghasemi, Robert H Brown
Aug 4, 1999·Brain : a Journal of Neurology·B A RabinD R Cornblath
Aug 23, 2006·Nature Reviews. Neuroscience·Piera Pasinelli, Robert H Brown
May 25, 2013·Amyotrophic Lateral Sclerosis & Frontotemporal Degeneration·John RavitsSteven Ringel

❮ Previous
Next ❯

Related Concepts

Related Feeds

ALS: Genetics

Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. Here is the latest research investigating genetic alterations in this genetically heterogeneous disorder.

ALS: Genetics

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

Amyloid Lateral Sclerosis

Amyotrophic Lateral Sclerosis (ALS) is a progressive nervous system disease associated with the death of neurons that control voluntary muscles. Discover the latest research on ALS here.