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Article

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

Neuro endocrinology letters - 1 Jan 2010

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

Abstract excerpt

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.

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Source

Identifiers

PMID: 20588230

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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