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Updated: Jun 11, 2026

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A Simple Composite Phenotype Scoring System for Evaluating Mouse Models of Cerebellar Ataxia
Published on: May 21, 2010
Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation
Hagen Kunte1, George Trendelenburg, Julia Matzen
1Department of Neurology, Charité-Universitätsmedizin Berlin, Germany. hagen.kunte@charite.de
Neuro Endocrinology Letters
|July 1, 2010
Abstract:
A 38-year-old male patient was admitted with slowly progressive spastic gait disturbance. Imaging revealed general spinal cord atrophy. Because of adrenal insufficiency, alacrima and achalasia, triple A syndrome was suspected. This is a case report of a triple A syndrome patient with a predominance of neurological features and a new heterozygous compound mutation in triple A syndrome gene.

