amyotrophic lateral sclerosis type 8

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amyotrophic lateral sclerosis type 8

A hereditary neurodegenerative disorder (OMIM:608627) which affects upper motor neurons in the brain and lower motor neurons in the brain stem and spinal cord, resulting in fatal paralysis; sensory abnormalities are absent. Death usually occurs within 2 to 5 years.

Molecular pathology
Defects of VAPB, which encodes a membrane protein involved in vesicle trafficking, cause amyotrophic lateral sclerosis type 8.
References in periodicals archive ?
ALS3 and ALS8 represent a single locus that encodes a Candida albicans adhesin; functional comparisons between Als3p and Als1p," Microbiology, vol.
Downregulation of VAPB expression in motor neurons derived from induced pluripotent stem cells of ALS8 patients.
Este proceso es regulado por sistemas de quorum sensing (QS) y por la induccion de genes especificos de hifas (HSGs) como los de SAP 4, 5 y 6, HWP1 y ALS3 y ALS8 (8).
In the new work, Muotri and colleagues turned to iPSCs derived from the skin cells of patients with a familial form of ALS called ALS8 to create motor neurons that provided a novel in vitro model of the disease.
Using iPSCs from several patients from two independent families, we found that VAPB protein levels are reduced in ALS8-derived motor neurons compared to similar cells from non-carrier siblings of ALS8 patients.
Muotri said the finding suggests reduced VAPB protein levels may be a key to the development of ALS8 and perhaps other forms of the disease as well, including sporadic or non-hereditary ALS, where reduced VAPB protein levels have also been documented.