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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
Luiz Eduardo NOVIS 
1   Universidade Federal do Paraná, Hospital de Clínicas, Programa de Pós Graduação em Medicina Interna, Curitiba PR, Brazil.
,
Mariana SPITZ 
2   Universidade Estadual do Rio de Janeiro, Hospital Universitário Pedro Ernesto, Serviço de Neurologia, Rio de Janeiro RJ, Brazil.
,
Hélio A. G. TEIVE 
3   Universidade Federal do Paraná, Neurology Service, Internal Medicine Department, Hospital de Clínicas, Curitiba, PR, Brazil.
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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

Author’s contributions:

LEN: writing - original draft, review and editing; review of literature; MS: writing - review and editing; HAGT: conceptualization; writing - review and editing.




Publication History

Received: 26 November 2020

Accepted: 02 February 2021

Article published online:
01 June 2023

© 2021. Academia Brasileira de Neurologia. This is an open access article published by Thieme under the terms of the Creative Commons Attribution-NonDerivative-NonCommercial License, permitting copying and reproduction so long as the original work is given appropriate credit. Contents may not be used for commecial purposes, or adapted, remixed, transformed or built upon. (https://creativecommons.org/licenses/by-nc-nd/4.0/)

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