Journal ArticleDOI
Familial adult motor neuron disease: amyotrophic lateral sclerosis.
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TLDR
Clinical and laboratory examinations of all three forms of MND were similar in clinical course and findings, but there were minor variations in age at onset, sex ratio, survival, and the frequency with which onset occurred in the lower extremities.Abstract:
We analyzed the medical records of 103 patients with familial adult motor neuron disease (MND). In the 72 families, 329 members were known to be affected. Observations were compared with the sporadic and Mariana forms of MND. Clinical and laboratory examinations of all three forms were similar in clinical course and findings, but there were minor variations in age at onset, sex ratio, survival, and the frequency with which onset occurred in the lower extremities. Recognition of the familial form still depends on diagnosis of the disease in more than one member of a family.read more
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Journal ArticleDOI
Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
TL;DR: Tight genetic linkage between FALS and a gene that encodes a cytosolic, Cu/Zn-binding superoxide dismutase (SOD1), a homodimeric metalloenzyme that catalyzes the dismutation of the toxic superoxide anion O–2 to O2 and H2O2 is reported.
Journal ArticleDOI
An adverse property of a familial ALS-linked SOD1 mutation causes motor neuron disease characterized by vacuolar degeneration of mitochondria
Philip C. Wong,Carlos A. Pardo,David R. Borchelt,Michael K. Lee,Neal G. Copeland,Nancy A. Jenkins,Sangram S. Sisodia,Don W. Cleveland,Don W. Cleveland,Donald L. Price +9 more
TL;DR: Mutations in Cu/Zn superoxide dismutase cause a subset of cases of familial amyotrophic lateral sclerosis, and four lines of mice accumulating one of these mutant proteins (G37R) develop severe, progressive motor neuron disease.
Journal ArticleDOI
Amyotrophic lateral sclerosis and structural defects in Cu,Zn superoxide dismutase
Han Xiang Deng,Afif Hentati,John A. Tainer,Zafar Iqbal,Annarueber Cayabyab,Wu Yen Hung,Elizabeth D. Getzoff,Ping Hu,Brian Herzfeldt,Raymond P. Roos,Carolyn Warner,Gang Deng,Edwin Soriano,Celestine Smyth,Hans E. Parge,Aftab Ahmed,Allen D. Roses,Robert A. Hallewell,Margaret A. Pericak-Vance,Teepu Siddique +19 more
TL;DR: In this article, single-site mutants in the Cu,Zn superoxide dismutase (SOD) gene occur in patients with the fatal neurodegenerative disorder familial amyotrophic lateral sclerosis.
Journal ArticleDOI
Unraveling the mechanisms involved in motor neuron degeneration in ALS.
TL;DR: Along with errors in the handling of synaptic glutamate and the potential excitotoxic response this provokes, model systems highlight the involvement of nonneuronal cells in disease progression and provide new therapeutic strategies.
Journal ArticleDOI
From charcot to lou gehrig: deciphering selective motor neuron death in als
TL;DR: Insights into abnormalities in two genes, together with errors in the handling of synaptic glutamate and the potential excitotoxic response that this alteration provokes, have provided leads for the development of new strategies to identify an as yet elusive remedy for this progressive, fatal disorder.
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Mutations in Cu/Zn superoxide dismutase gene are associated with familial amyotrophic lateral sclerosis
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