The history behind ALS type 8: from the first phenotype description to the discovery of VAPB mutation

The history behind ALS type 8: from the first phenotype description to the discovery of VAPB mutation

ABSTRACT Over the past 68 years, the Finkel type late-onset adult autosomal dominant spinal muscular atrophy (SMA) that is allelic with amyotrophic lateral sclerosis-8 (ALS8) gained a genotype-phenotype correlation among the motor neuron diseases through the work of groups led by Zatz and Marques Jr...

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Veröffentlicht in:Arquivos de neuro-psiquiatria 2021-08, Vol.79 (8), p.743-747
Hauptverfasser: NOVIS, Luiz Eduardo, SPITZ, Mariana, TEIVE, Hélio A. G.
Format: Artikel
Sprache:eng
Schlagworte:
ALS8
Amyotrophic lateral sclerosis
Genotypes
Historical Note
Motor neuron diseases
NEUROSCIENCES
Phenotypes
PSYCHIATRY
Spinal muscular atrophy
VAPB gene
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Zusammenfassung:ABSTRACT Over the past 68 years, the Finkel type late-onset adult autosomal dominant spinal muscular atrophy (SMA) that is allelic with amyotrophic lateral sclerosis-8 (ALS8) gained a genotype-phenotype correlation among the motor neuron diseases through the work of groups led by Zatz and Marques Jr.
ISSN:0004-282X
1678-4227
1678-4227
DOI:10.1590/0004-282X-ANP-2020-0548