Familial amyotrophic lateral sclerosis with bulbar onset and a novel Asp101Tyr Cu/Zn superoxide dismutase gene mutation

Acta Neuropathologica
Chun-Feng TanHitoshi Takahashi

Abstract

We describe a patient with familial amyotrophic lateral sclerosis (FALS) in whom we identified a novel missense mutation in exon 4 (Asp101Tyr) of the Cu/Zn superoxide dismutase (SOD1) gene. The disease started with a bulbar symptom (rapidly progressive hoarseness) and at autopsy showed degenerative changes restricted to the upper and lower motor neuron systems (more strictly, with lower motor predominance, showing the most severe degeneration in the nucleus ambiguus). Occasional intracytoplasmic Lewy-body-like hyaline inclusions that were immunoreactive for ubiquitin and SOD1, but immunonegative for neurofilament protein, were found in the lower motor neurons. This is the first report of hoarseness as the initial manifestation of FALS. This SOD1 gene mutation may be associated with a particular clinicopathological phenotype.

References

May 1, 1978·Otolaryngology·R J CarpenterF M Howard
Sep 1, 1991·Journal of the Neurological Sciences·H MizusawaA Hirano
Apr 29, 1994·Biochemical and Biophysical Research Communications·R NakanoN Taniguchi
Dec 1, 1993·Journal of the Neurological Sciences·H TakahashiT Miyatake
Jun 1, 1996·Annals of Neurology·R W OrrellJ S de Belleroche
Feb 1, 1997·Annals of Neurology·M E CudkowiczR H Brown
Mar 20, 1998·Annals of Neurology·C E ShawP N Leigh
Sep 12, 2000·Journal of the Neurological Sciences·L CervenakovaL G Goldfarb
Mar 1, 2002·Muscle & Nerve·Collette K Hand, Guy A Rouleau
Apr 25, 2003·Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases·Kimiko InoueSaburo Sakoda

❮ Previous
Next ❯

Citations

Jun 7, 2013·Human Molecular Genetics·Tomohiko IshiharaOsamu Onodera
Feb 27, 2007·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Noriyuki ShibataMakio Kobayashi
Jul 15, 2009·Experimental Biology and Medicine·Sai V SeetharamanP John Hart
Oct 25, 2011·Rinshō shinkeigaku = Clinical neurology·Motomi AraiYuki Yagi
Sep 21, 2011·Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases·Paola OrigonePaola Mandich
Jul 23, 2005·Amyotrophic Lateral Sclerosis and Other Motor Neuron Disorders : Official Publication of the World Federation of Neurology, Research Group on Motor Neuron Diseases·Jiro FukaeYoshikuni Mizuno
Jan 27, 2015·International Journal of Pediatric Otorhinolaryngology·Amy K HsuMax M April
Apr 23, 2020·Journal of Neurology, Neurosurgery, and Psychiatry·Melina Pazian MartinsMarcondes C França
Dec 22, 2019·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Makoto HideshimaHideki Mochizuki
Jul 23, 2016·Neuropathology : Official Journal of the Japanese Society of Neuropathology·Haishan JiangHitoshi Takahashi
Jul 8, 2021·BMJ Case Reports·Brian GordonTimothy J Counihan

❮ Previous
Next ❯

Related Concepts

Related Feeds

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.

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: Phenotypes

Amyotrophic Lateral Sclerosis (ALS) is a neurodegenerative disorder characterized phenotypically by progressive muscle weakness. Clinical phenotypes of ALS can be classified based on the pattern, level, and area of onset (e.g. bulbar, cervical, lumbar). Here is the latest research investigating phenotypes of ALS.

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.