Spinal cord atrophy in triple A syndrome associated with a novel compound heterozygous mutation.
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.
Kunte
Hagen
H
Department of Neurology, Charité-Universitätsmedizin Berlin, Germany. hagen.kunte@charite.de
Trendelenburg
George
G
Matzen
Julia
J
Ventz
Manfred
M
Kornak
Uwe
U
Harms
Lutz
L
D000309:Adrenal Insufficiency / Q000150:complications / Q000235:genetics*; D000328:Adult; D001284:Atrophy / Q000150:complications; D004931:Esophageal Achalasia / Q000150:complications / Q000235:genetics*; D006579:Heterozygote; D006801:Humans; D007766:Lacrimal Apparatus Diseases / Q000150:complications / Q000235:genetics*; D008297:Male; D009154:Mutation; D009419:Nerve Tissue Proteins / Q000235:genetics*; D028861:Nuclear Pore Complex Proteins / Q000235:genetics*; D013116:Spinal Cord / Q000473:pathology*; D013577:Syndrome
C416506:AAAS protein, human; D009419:Nerve Tissue Proteins; D028861:Nuclear Pore Complex Proteins