Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS)

Larisa Cervenakova, Iosif I. Protas, Asao Hirano, Veniamin I. Votiakov, Mikhail K. Nedzved, Natalia D. Kolomiets, Inna Taller, Kye Yoon Park, Nyamkhishig Sambuughin, D. Carleton Gajdusek, Paul Brown, Lev G. Goldfarb

Research output: Contribution to journalArticle

26 Citations (Scopus)

Abstract

Twelve cases of adult-onset progressive muscular atrophy variant of amyotrophic lateral sclerosis (PMA/ALS) were studied in a small rural population of 1500 in the Republic of Belarus (former Soviet Union). The patients were members of three apparently related kindreds, each showing autosomal dominant pattern of disease inheritance. The average age at clinical onset ranged from 26 to 57 years (mean, 40 years). Each patient suffered from skeletal muscle weakness and wasting, starting in the limbs and spreading to the trunk and neck, with very limited bulbar and no upper motor neuron involvement. Death from respiratory failure occurred from 13 to 48 months (mean, 28 months) after first symptoms. Dramatically decreased number of spinal motor neurons was the most characteristic neuropathologic feature in two autopsied cases. Most of the remaining degenerating neurons contained intracytoplasmic hyaline inclusion bodies. A D101N mutation in exon 4 of the SOD1 gene was identified in a PMA/ALS patient and in one of her three unaffected children. Our data support the view that some subtypes of familial ALS associated with SOD1 mutations may present as PMA. Diagnostic criteria of ALS should be accordingly modified to include the PMA variant of familial ALS. (C) 2000 Elsevier Science B.V.

Original languageEnglish (US)
Pages (from-to)124-130
Number of pages7
JournalJournal of the Neurological Sciences
Volume177
Issue number2
DOIs
StatePublished - Aug 15 2000

Fingerprint

Spinal Muscular Atrophy
Amyotrophic Lateral Sclerosis
Motor Neurons
Republic of Belarus
Inheritance Patterns
Mutation
Hyalin
USSR
Inclusion Bodies
Muscle Weakness
Rural Population
Age of Onset
Respiratory Insufficiency
Exons
Skeletal Muscle
Neck
Extremities
Neurons
Genes
Amyotrophic lateral sclerosis 1

Keywords

  • Belarus
  • D101N mutation
  • Familial amyotrophic lateral sclerosis
  • SOD1 gene

ASJC Scopus subject areas

  • Aging
  • Clinical Neurology
  • Surgery
  • Developmental Neuroscience
  • Neurology
  • Neuroscience(all)

Cite this

Cervenakova, L., Protas, I. I., Hirano, A., Votiakov, V. I., Nedzved, M. K., Kolomiets, N. D., ... Goldfarb, L. G. (2000). Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS). Journal of the Neurological Sciences, 177(2), 124-130. https://doi.org/10.1016/S0022-510X(00)00350-6

Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS). / Cervenakova, Larisa; Protas, Iosif I.; Hirano, Asao; Votiakov, Veniamin I.; Nedzved, Mikhail K.; Kolomiets, Natalia D.; Taller, Inna; Park, Kye Yoon; Sambuughin, Nyamkhishig; Gajdusek, D. Carleton; Brown, Paul; Goldfarb, Lev G.

In: Journal of the Neurological Sciences, Vol. 177, No. 2, 15.08.2000, p. 124-130.

Research output: Contribution to journalArticle

Cervenakova, L, Protas, II, Hirano, A, Votiakov, VI, Nedzved, MK, Kolomiets, ND, Taller, I, Park, KY, Sambuughin, N, Gajdusek, DC, Brown, P & Goldfarb, LG 2000, 'Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS)', Journal of the Neurological Sciences, vol. 177, no. 2, pp. 124-130. https://doi.org/10.1016/S0022-510X(00)00350-6
Cervenakova L, Protas II, Hirano A, Votiakov VI, Nedzved MK, Kolomiets ND et al. Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS). Journal of the Neurological Sciences. 2000 Aug 15;177(2):124-130. https://doi.org/10.1016/S0022-510X(00)00350-6
Cervenakova, Larisa ; Protas, Iosif I. ; Hirano, Asao ; Votiakov, Veniamin I. ; Nedzved, Mikhail K. ; Kolomiets, Natalia D. ; Taller, Inna ; Park, Kye Yoon ; Sambuughin, Nyamkhishig ; Gajdusek, D. Carleton ; Brown, Paul ; Goldfarb, Lev G. / Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS). In: Journal of the Neurological Sciences. 2000 ; Vol. 177, No. 2. pp. 124-130.
@article{c961a19469e44fd09ce760fbf1bffb49,
title = "Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS)",
abstract = "Twelve cases of adult-onset progressive muscular atrophy variant of amyotrophic lateral sclerosis (PMA/ALS) were studied in a small rural population of 1500 in the Republic of Belarus (former Soviet Union). The patients were members of three apparently related kindreds, each showing autosomal dominant pattern of disease inheritance. The average age at clinical onset ranged from 26 to 57 years (mean, 40 years). Each patient suffered from skeletal muscle weakness and wasting, starting in the limbs and spreading to the trunk and neck, with very limited bulbar and no upper motor neuron involvement. Death from respiratory failure occurred from 13 to 48 months (mean, 28 months) after first symptoms. Dramatically decreased number of spinal motor neurons was the most characteristic neuropathologic feature in two autopsied cases. Most of the remaining degenerating neurons contained intracytoplasmic hyaline inclusion bodies. A D101N mutation in exon 4 of the SOD1 gene was identified in a PMA/ALS patient and in one of her three unaffected children. Our data support the view that some subtypes of familial ALS associated with SOD1 mutations may present as PMA. Diagnostic criteria of ALS should be accordingly modified to include the PMA variant of familial ALS. (C) 2000 Elsevier Science B.V.",
keywords = "Belarus, D101N mutation, Familial amyotrophic lateral sclerosis, SOD1 gene",
author = "Larisa Cervenakova and Protas, {Iosif I.} and Asao Hirano and Votiakov, {Veniamin I.} and Nedzved, {Mikhail K.} and Kolomiets, {Natalia D.} and Inna Taller and Park, {Kye Yoon} and Nyamkhishig Sambuughin and Gajdusek, {D. Carleton} and Paul Brown and Goldfarb, {Lev G.}",
year = "2000",
month = "8",
day = "15",
doi = "10.1016/S0022-510X(00)00350-6",
language = "English (US)",
volume = "177",
pages = "124--130",
journal = "Journal of the Neurological Sciences",
issn = "0022-510X",
publisher = "Elsevier",
number = "2",

}

TY - JOUR

T1 - Progressive muscular atrophy variant of familial amyotrophic lateral sclerosis (PMA/ALS)

AU - Cervenakova, Larisa

AU - Protas, Iosif I.

AU - Hirano, Asao

AU - Votiakov, Veniamin I.

AU - Nedzved, Mikhail K.

AU - Kolomiets, Natalia D.

AU - Taller, Inna

AU - Park, Kye Yoon

AU - Sambuughin, Nyamkhishig

AU - Gajdusek, D. Carleton

AU - Brown, Paul

AU - Goldfarb, Lev G.

PY - 2000/8/15

Y1 - 2000/8/15

N2 - Twelve cases of adult-onset progressive muscular atrophy variant of amyotrophic lateral sclerosis (PMA/ALS) were studied in a small rural population of 1500 in the Republic of Belarus (former Soviet Union). The patients were members of three apparently related kindreds, each showing autosomal dominant pattern of disease inheritance. The average age at clinical onset ranged from 26 to 57 years (mean, 40 years). Each patient suffered from skeletal muscle weakness and wasting, starting in the limbs and spreading to the trunk and neck, with very limited bulbar and no upper motor neuron involvement. Death from respiratory failure occurred from 13 to 48 months (mean, 28 months) after first symptoms. Dramatically decreased number of spinal motor neurons was the most characteristic neuropathologic feature in two autopsied cases. Most of the remaining degenerating neurons contained intracytoplasmic hyaline inclusion bodies. A D101N mutation in exon 4 of the SOD1 gene was identified in a PMA/ALS patient and in one of her three unaffected children. Our data support the view that some subtypes of familial ALS associated with SOD1 mutations may present as PMA. Diagnostic criteria of ALS should be accordingly modified to include the PMA variant of familial ALS. (C) 2000 Elsevier Science B.V.

AB - Twelve cases of adult-onset progressive muscular atrophy variant of amyotrophic lateral sclerosis (PMA/ALS) were studied in a small rural population of 1500 in the Republic of Belarus (former Soviet Union). The patients were members of three apparently related kindreds, each showing autosomal dominant pattern of disease inheritance. The average age at clinical onset ranged from 26 to 57 years (mean, 40 years). Each patient suffered from skeletal muscle weakness and wasting, starting in the limbs and spreading to the trunk and neck, with very limited bulbar and no upper motor neuron involvement. Death from respiratory failure occurred from 13 to 48 months (mean, 28 months) after first symptoms. Dramatically decreased number of spinal motor neurons was the most characteristic neuropathologic feature in two autopsied cases. Most of the remaining degenerating neurons contained intracytoplasmic hyaline inclusion bodies. A D101N mutation in exon 4 of the SOD1 gene was identified in a PMA/ALS patient and in one of her three unaffected children. Our data support the view that some subtypes of familial ALS associated with SOD1 mutations may present as PMA. Diagnostic criteria of ALS should be accordingly modified to include the PMA variant of familial ALS. (C) 2000 Elsevier Science B.V.

KW - Belarus

KW - D101N mutation

KW - Familial amyotrophic lateral sclerosis

KW - SOD1 gene

UR - http://www.scopus.com/inward/record.url?scp=19244377528&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=19244377528&partnerID=8YFLogxK

U2 - 10.1016/S0022-510X(00)00350-6

DO - 10.1016/S0022-510X(00)00350-6

M3 - Article

C2 - 10980308

AN - SCOPUS:19244377528

VL - 177

SP - 124

EP - 130

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

SN - 0022-510X

IS - 2

ER -