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

Luiz Eduardo NOVIS; Mariana SPITZ; Hélio A. G. TEIVE

doi:10.1590/0004-282X-ANP-2020-0548

Arquivos de Neuro-Psiquiatria, Inhaltsverzeichnis

CC BY-NC-ND 4.0 · Arq Neuropsiquiatr 2021; 79(08): 743-747
DOI: 10.1590/0004-282X-ANP-2020-0548

Historical Note

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

A história por detrás da ELA tipo 8: da primeira descrição do fenótipo à descoberta da mutação VAPB

Autoren

Luiz Eduardo NOVIS

¹Universidade Federal do Paraná, Hospital de Clínicas, Programa de Pós Graduação em Medicina Interna, Curitiba PR, Brazil.
Mariana SPITZ

²Universidade Estadual do Rio de Janeiro, Hospital Universitário Pedro Ernesto, Serviço de Neurologia, Rio de Janeiro RJ, Brazil.
Hélio A. G. TEIVE

³Universidade Federal do Paraná, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Curitiba, PR, Brazil.

Abstract

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.

RESUMO

Nos últimos 68 anos, a atrofia muscular espinhal (AME), autossômica dominante, de início tardio, em adultos, conhecida como doença de Finkel, que é alélica com esclerose lateral amiotrófica tipo 8 (ELA8), ganhou uma correlação fenotípica e genotípica dentre as doenças do neurônio motor, a partir da colaboração dos grupos de Zatz e Marques Jr.

Keywords:

Spinal muscular atrophy - amyotrophic lateral sclerosis - ALS8 - VAPB gene

Palavras-chave:

Atrofia muscular espinhal - esclerose lateral amiotrófica - ELA8 - gene VAPB

Volltext

Referenzen

References
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