RGD Reference Report - Coexistence of dominant and recessive familial amyotrophic lateral sclerosis with the D90A Cu,Zn superoxide dismutase mutation within the same country. - Rat Genome Database

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Coexistence of dominant and recessive familial amyotrophic lateral sclerosis with the D90A Cu,Zn superoxide dismutase mutation within the same country.

Authors: Khoris, J  Moulard, B  Briolotti, V  Hayer, M  Durieux, A  Clavelou, P  Malafosse, A  Rouleau, GA  Camu, W 
Citation: Khoris J, etal., Eur J Neurol. 2000 Mar;7(2):207-11.
RGD ID: 8655873
Pubmed: PMID:10809943   (View Abstract at PubMed)

The Cu,Zn superoxide dismutase (Cu,Zn SOD) mutations described in amyotrophic lateral sclerosis (ALS) have, for the most part, a dominant influence. However, while a few cases with a heterozygous D90A mutation have been described in different countries, D90A has been recently proven to be recessively inherited with a common founder effect in Scandinavia. We screened French ALS families for Cu,Zn SOD mutations. The presence of the D90A allele was found in two index-cases, and their families were subsequently studied. In the first family the ALS patients were homozygotes for D90A, while in the second, all ALS patients were heterozygotes. In both families the disease was found to initially involve the lower limbs with slower progression than in sporadic cases, and frequent atypical signs such as paresthesia and urgency of micturition. We determined the D90A allele frequency in controls (n = 200) and sporadic ALS patients (n = 408). No D90A allele was found. This is the first report of coexistence of dominant and recessive families with the D90A Cu,Zn SOD mutation within the same country.



RGD Manual Disease Annotations    Click to see Annotation Detail View

  
Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
SOD1Humanamyotrophic lateral sclerosis type 1  IAGP DNA:missense mutation:cds:p.D90A (human)RGD 
Sod1Ratamyotrophic lateral sclerosis type 1  ISOSOD1 (Homo sapiens)DNA:missense mutation:cds:p.D90A (human)RGD 
Sod1Mouseamyotrophic lateral sclerosis type 1  ISOSOD1 (Homo sapiens)DNA:missense mutation:cds:p.D90A (human)RGD 

Phenotype Annotations    Click to see Annotation Detail View

Manual Human Phenotype Annotations - RGD

Object SymbolSpeciesTermQualifierEvidenceWithNotesSourceOriginal Reference(s)
SOD1HumanAbnormal lower motor neuron morphology  IAGP DNA:missense mutation:cds:p.D90ARGD 
SOD1HumanAbnormal upper motor neuron morphology  IAGP DNA:missense mutation:cds:p.D90ARGD 
SOD1HumanMotor neuron atrophy  IAGP DNA:missense mutation:cds:p.D90ARGD 
Objects Annotated

Genes (Rattus norvegicus)
Sod1  (superoxide dismutase 1)

Genes (Mus musculus)
Sod1  (superoxide dismutase 1, soluble)

Genes (Homo sapiens)
SOD1  (superoxide dismutase 1)


Additional Information