title: Neurological features in adult Triple-A (Allgrove) syndrome.
abstract: Triple-A or Allgrove syndrome is a rare multisystem disease classically associated with esophageal achalasia, adrenal insufficiency and alacrima. Here, we describe the poorly understood neurological characteristics often associated with this condition, through the clinical and electrophysiological analysis of eight patients. All patients were genetically confirmed and had a mutation in the ALADIN gene. They all displayed a classical picture of Triple-A syndrome: all suffered from achalasia and alacrima and half of them from adrenal insufficiency. However, all harbored a neurological picture characterized by a recognizable pattern of peripheral neuropathy. Other neurological features included cognitive deficits, pyramidal syndrome, cerebellar dysfunction, dysautonomia, neuro-ophthalmological signs and bulbar and facial symptoms. This neurological picture was prominent in all patients and misled the initial diagnosis in six of them, which had a late onset. We then review the previous neurological reports of this disease, to improve the understanding of this rare condition. Diagnosis of late-onset Triple-A syndrome is difficult when the clinical picture is mainly neurological and when endocrine or gastrointestinal signs are minor. The characteristics of the peripheral neuropathy, among other neurological signs, can be of help.
authors.affiliation: Service d'ElectroNeuroMyographie et Pathologie Neuromusculaire, Hôpital Neurologique et Neurochirurgical Pierre Wertheimer, HCL, 59 Boulevard Pinel, 69677 Lyon, Bron Cedex, France.
authors.forename: Anne-Evelyne
authors.initials: AE
authors.lastname: Vallet
authors.forename: Annie
authors.initials: A
authors.lastname: Verschueren
authors.forename: Philippe
authors.initials: P
authors.lastname: Petiot
authors.forename: Nadia
authors.initials: N
authors.lastname: Vandenberghe
authors.forename: Marc
authors.initials: M
authors.lastname: Nicolino
authors.forename: Sabine
authors.initials: S
authors.lastname: Roman
authors.forename: Jean
authors.initials: J
authors.lastname: Pouget
authors.forename: Christophe
authors.initials: C
authors.lastname: Vial
mesh_terms: D000309:Adrenal Insufficiency / Q000175:diagnosis / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D000328:Adult; D017668:Age of Onset; D000368:Aged; D020968:Brachial Plexus Neuritis / Q000209:etiology; D004568:Electrodiagnosis; D004931:Esophageal Achalasia / Q000175:diagnosis / Q000209:etiology / Q000235:genetics / Q000473:pathology*; D005260:Female; D020233:Gait Disorders, Neurologic / Q000209:etiology; D006801:Humans; D008297:Male; D008875:Middle Aged; D009046:Motor Neurons / Q000502:physiology; D009422:Nervous System Diseases / Q000473:pathology*; D010523:Peripheral Nervous System Diseases / Q000209:etiology; D012189:Retrospective Studies; D013909:Thorax / Q000002:abnormalities; D014059:Tongue / Q000473:pathology; D055815:Young Adult