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
Neuro Endocrinology Letters 2010, 31 (3): 301-3
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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