Related Experiment Video
Updated: Jul 11, 2026

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
Published on: May 16, 2017
Pure bulbar motor neuron involvement linked to an abnormal CAG repeat expansion in the androgen receptor gene
Julien Praline1, Anne-Marie Guennoc, Marie-Claire Malinge
1ALSCentre, CHRUde Tours, Tours, France. julien.praline@med.univ-tours.fr
Abstract:
Spinal and bulbar muscular atrophy (SBMA) is an X-linked adult motor neuron disorder caused by an abnormal CAG-repeat expansion in the first exon of the androgen receptor gene. This disease associates progressive lower motor neuron affection and endocrine disturbances. Bulbar symptoms appear usually late in the clinical course but clinical heterogeneity is demonstrated. We report the case of a 62-year-old male with a 10-year history of progressive bulbar involvement related to an abnormal CAG-repeat expansion in the androgen receptor gene. This atypical phenotype led us to discuss the role of some genetic or environmental factors in SBMA.
Related Concept Videos
Huntington Disease l: Introduction
Abnormal Proliferation
Pleiotropy
Neural Regulation
The Retinoblastoma Gene
The first-ever tumor suppressor gene called Rb was identified in retinoblastoma - a rare eye tumor in children. In inherited forms of the disease, a child inherits one defective copy of the Rb gene, which predisposes them to retinoblastoma. However,...
Parkinson Disease ll: Pathophysiology

