Progressive bulbospinal amyotrophy in Triple A syndrome with AAAS gene mutation

Neurology

Volumn 58, Issue 6, 2002, Pages 962-965

  Goizet, C ^a   Catargi, B ^b   Tison, F ^b   Tullio Pelet, A ^c   Hadj Rabia, S ^c   Pujol, F ^b   Lagueny, A ^b   Lyonnet, S ^c   Lacombe, D ^a  

^a HÔPITAL PELLEGRIN   (France)

^b HAUT LÉVÊQUE HOSPITAL   (France)

^c INSERM   (France)

Author keywords

[No Author keywords available]

Indexed keywords

CORTICOTROPIN;

ADRENAL INSUFFICIENCY; ADULT; ALLGROVE SYNDROME; ARTICLE; AUTONOMIC DYSFUNCTION; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; DISEASE ASSOCIATION; ESOPHAGUS ACHALASIA; FEMALE; GENE MUTATION; HUMAN; KENNEDY DISEASE; LACRIMATION; NEUROLOGIC DISEASE; NONSENSE MUTATION; PHENOTYPE; PRIORITY JOURNAL;

EID: 0037177071     PISSN: 00283878     EISSN: None     Source Type: Journal    
DOI: 10.1212/WNL.58.6.962     Document Type: Article

References (10)

1. Familial glucocorticoid deficiency with achalasia of the cardia and deficient tear production
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3. Neurological and adrenal dysfunction in the adrenal insufficiency/achalasia/alacrima (3A) syndrome
4. The "4A" syndrome: Adrenocortical insufficiency associated with achalasia, alacrima, autonomic and other neurological abnormalities
5. Mutation of a novel WD-repeat protein gene in Allgrove (Triple A) syndrome
6. Triple A syndrome is caused by mutations in AAAS, a new WD-repeat protein gene
7. The WD repeat: A common architecture for diverse functions
8. The Cockayne syndrome group A gene encodes a WD repeat protein that interacts with CSB protein and a subunit of RNA polymerase II TFIIH
9. Four siblings with achalasia, alacrima and neurological abnormalities in a consanguineous family
10. A syndrome of alacrima, achalasia and neurological anomalies without adrenocortical insufficiency