Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation

Hagen Kunte; George Trendelenburg; Julia Matzen; Manfred Ventz; Uwe Kornak; Lutz Harms

Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation

Neuro Endocrinol Lett. 2010;31(3):301-3.

Authors

Hagen Kunte¹, George Trendelenburg, Julia Matzen, Manfred Ventz, Uwe Kornak, Lutz Harms

Affiliation

¹ Department of Neurology, Charité-Universitätsmedizin Berlin, Germany. [email protected]

PMID: 20588230

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.

Publication types

Case Reports

MeSH terms

Adrenal Insufficiency / complications
Adrenal Insufficiency / genetics*
Adult
Atrophy / complications
Esophageal Achalasia / complications
Esophageal Achalasia / genetics*
Heterozygote
Humans
Lacrimal Apparatus Diseases / complications
Lacrimal Apparatus Diseases / genetics*
Male
Mutation*
Nerve Tissue Proteins / genetics*
Nuclear Pore Complex Proteins / genetics*
Spinal Cord / pathology*
Syndrome

Substances

AAAS protein, human
Nerve Tissue Proteins
Nuclear Pore Complex Proteins