Literature DB >> 11914417

Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation.

C Goizet1, B Catargi, F Tison, A Tullio-Pelet, S Hadj-Rabia, F Pujol, A Lagueny, S Lyonnet, D Lacombe.   

Abstract

Triple A (3A) syndrome, a rare autosomal recessive disorder, is characterized by adrenocorticotropic hormone-resistant adrenal insufficiency, achalasia of the cardia, alacrima, and variable autonomic and neurologic dysfunction. The gene responsible, AAAS, recently has been identified. We describe the neurologic phenotype of the first adult case of 3A syndrome presenting bulbospinal amyotrophy as the prominent sign in association with a homozygous nonsense mutation identified in the AAAS gene.

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Year:  2002        PMID： 11914417     DOI： 10.1212/wnl.58.6.962

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


  20 in total

1.  Familial glucocorticoid deficiency syndromes.

Authors:  Frederich C Luft
Journal:  J Mol Med (Berl)       Date:  2002-07       Impact factor: 4.599

2.  Triple-a syndrome: a rare etiology of adult achalasia.

Authors:  Sabine Roman; Marc Nicolino; François Mion; Anna Tullio-Pelet; Denis Péré-Vergé; Jean-Christophe Souquet
Journal:  Dig Dis Sci       Date:  2005-03       Impact factor: 3.199

3.  Unusual presentation of triple A syndrome mimicking Sjögren's syndrome.

Authors:  Ahmet Mesut Onat; Yavuz Pehlivan; Hakan Buyukhatipoglu; Yusuf Ziya Igci; Yusuf Ziya; Seydi Okumus; Cemile Arikan; Sibel Oguzkan
Journal:  Clin Rheumatol       Date:  2006-12-19       Impact factor: 2.980

4.  Long-term clinical follow-up and molecular genetic findings in eight patients with triple A syndrome.

Authors:  Miroslav Dumic; Nina Barišic; Vesna Kusec; Katarina Stingl; Mate Skegro; Andrija Stanimirovic; Katrin Koehler; Angela Huebner
Journal:  Eur J Pediatr       Date:  2012-04-28       Impact factor: 3.183

5.  Clinical and genetic characterisation of a series of patients with triple A syndrome.

Authors:  Erdal Kurnaz; Paolo Duminuco; Zehra Aycan; Şenay Savaş-Erdeve; Nursel Muratoğlu Şahin; Melişah Keskin; Elvan Bayramoğlu; Marco Bonomi; Semra Çetinkaya
Journal:  Eur J Pediatr       Date:  2017-12-19       Impact factor: 3.183

6.  Neurological features in adult Triple-A (Allgrove) syndrome.

Authors:  Anne-Evelyne Vallet; Annie Verschueren; Philippe Petiot; Nadia Vandenberghe; Marc Nicolino; Sabine Roman; Jean Pouget; Christophe Vial
Journal:  J Neurol       Date:  2011-06-09       Impact factor: 4.849

7.  Allgrove (Triple A) Syndrome: A Case Report from the Kashmir Valley.

Authors:  Raiz Ahmad Misgar; Nazir Ahmad Pala; Mahroosa Ramzan; Arshad Iqbal Wani; Mir Iftikhar Bashir; Bashir Ahmad Laway
Journal:  Endocrinol Metab (Seoul)       Date:  2015-09-10

8.  Two siblings with triple A syndrome and novel mutation presenting as hereditary polyneuropathy.

Authors:  Miroslav Dumić; Nina Barišić; Nataša Rojnić-Putarek; Vesna Kušec; Andrija Stanimirović; Katrin Koehler; Angela Huebner
Journal:  Eur J Pediatr       Date:  2010-10-08       Impact factor: 3.183

9.  The nuclear pore complex protein ALADIN is mislocalized in triple A syndrome.

Authors:  Janet M Cronshaw; Michael J Matunis
Journal:  Proc Natl Acad Sci U S A       Date:  2003-05-02       Impact factor: 11.205

10.  Deficiency of ferritin heavy-chain nuclear import in triple a syndrome implies nuclear oxidative damage as the primary disease mechanism.

Authors:  Helen L Storr; Barbara Kind; David A Parfitt; J Paul Chapple; M Lorenz; Katrin Koehler; Angela Huebner; Adrian J L Clark
Journal:  Mol Endocrinol       Date:  2009-10-23
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