scholarly journals Identification of AAAS gene mutation in Allgrove syndrome: A report of three cases

2015 ◽  
Vol 10 (4) ◽  
pp. 1277-1282 ◽  
Author(s):  
WENJING LI ◽  
CHUNXIU GONG ◽  
ZHAN QI ◽  
DI WU ◽  
BINGYAN CAO
Keyword(s):  
Gene Mutation ◽  
Allgrove Syndrome ◽  
Aaas Gene Mutation ◽  
Aaas Gene

Triple A (Allgrove) syndrome due to AAAS gene mutation with a rare association of amyotrophy

HORMONES ◽  
2020 ◽  
Author(s):  
Satyam Singh Jayant ◽  
Rahul Gupta ◽  
Kanhaiya Agrawal ◽  
Liza Das ◽  
Pinaki Dutta ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Allgrove Syndrome ◽  
Rare Association ◽  
Aaas Gene Mutation ◽  
Aaas Gene

Two Italian patients with novel AAAS gene mutation expand allelic and phenotypic spectrum of triple A (Allgrove) syndrome

2010 ◽  
Vol 77 (3) ◽  
pp. 298-301 ◽  
Author(s):  
C Palka ◽  
R Giuliani ◽  
F Brancati ◽  
A Mohn ◽  
A Di Muzio ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Allgrove Syndrome ◽  
Phenotypic Spectrum ◽  
Aaas Gene Mutation ◽  
Aaas Gene

Progressive bulbospinal amyotrophy in Triple A syndrome with AAAS gene mutation

Neurology ◽  
2002 ◽  
Vol 58 (6) ◽  
pp. 962-965 ◽  
Author(s):  
C. Goizet ◽  
B. Catargi ◽  
F. Tison ◽  
A. Tullio-Pelet ◽  
S. Hadj-Rabia ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Triple A Syndrome ◽  
Aaas Gene Mutation ◽  
Aaas Gene

Myoclonus and generalized digestive dysmotility in triple A syndrome with AAAS gene mutation

2003 ◽  
Vol 19 (3) ◽  
pp. 344-346 ◽  
Author(s):  
Anne Roubergue ◽  
Emmanuelle Apartis ◽  
Marie Vidailhet ◽  
Cyril Mignot ◽  
Anna Tullio-Pelet ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Triple A Syndrome ◽  
Aaas Gene Mutation ◽  
Aaas Gene

Phenotypic heterogeneity in AAAS gene mutation

2007 ◽  
Vol 93 (9) ◽  
pp. 1257-1259 ◽  
Author(s):  
P Barat ◽  
C Goizet ◽  
A Tullio-Pelet ◽  
O Puel ◽  
C Labessan ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Phenotypic Heterogeneity ◽  
Aaas Gene Mutation ◽  
Aaas Gene

Progressive bulbospinal amyotrophy in triple A syndrome with AAAS gene mutation

Neurology ◽  
2002 ◽  
Vol 59 (11) ◽  
pp. 1823-1823 ◽  
Author(s):  
M. de Carvalho ◽  
H. Houlden ◽  
C. Goizet ◽  
D. Lacombe
Keyword(s):  
Gene Mutation ◽  
Triple A Syndrome ◽  
Aaas Gene Mutation ◽  
Aaas Gene

scholarly journals A Case of Allgrove Syndrome with a Novel IVS7 +1 G>A Mutation of The AAAS Gene

2012 ◽  
Vol 21 (1) ◽  
pp. 11-13 ◽  
Author(s):  
Satoru Ikemoto ◽  
Ken Sakurai ◽  
Naruo Kuwashima ◽  
Yoshihiro Saito ◽  
Ichiro Miyata ◽  
...  
Keyword(s):  
Allgrove Syndrome ◽  
Aaas Gene

Mutation Spectra of the AAAS Gene in Iranian Families with Allgrove Syndrome

2011 ◽  
Vol 42 (2) ◽  
pp. 163-168 ◽  
Author(s):  
Vahid Reza Yassaee ◽  
Ziba Soltani ◽  
Bahareh Malekafzali Ardakani
Keyword(s):  
Allgrove Syndrome ◽  
Aaas Gene ◽  
Mutation Spectra

scholarly journals Allgrove syndrome and motor neuron disease

2018 ◽  
Vol 10 (2) ◽  
Author(s):  
Marcos R.G. De Freitas ◽  
Marco Orsini ◽  
Alexandra Prufer de Queiroz Campos Araújo ◽  
Luiz João Abraão Jr. ◽  
Gilberto Miranda Barbosa ◽  
...  
Keyword(s):  
Motor Neuron ◽  
Motor Neuron Disease ◽  
Case Reports ◽  
Symptomatic Treatment ◽  
Allgrove Syndrome ◽  
Pathogenic Variants ◽  
Aaas Gene ◽  
The Subject ◽  
Slow Evolution ◽  
Symptoms And Signs

Allgrove or triple A syndrome (AS or AAA) is a rare autosomal recessive syndrome with variable phenotype due to mutations in AAAS gene which encodes a protein called ALADIN. Generally, it’s characterized by of adrenal insufficiency in consequence of adrenocorticotropic hormone (ACTH) resistance, besides of achalasia, and alacrimia. Neurologic features are varied and have been the subject of several case reports and reviews. A few cases of Allgrove syndrome with motor neuron disease have been already described. A 25-year-old white man, at the age of four, presented slowly progressive distal amyotrophy and weakness, autonomic dysfunction, dysphagia and lack of tears. He suffered later of orthostatic hypotension and erectile dysfunction. He presented distal amytrophy in four limbs, tongue myofasiculations, alacrimia, hoarseness and dysphagia due to achalasia. The ENMG showed generalized denervation with normal conduction velocities. Genetic testing revealed 2 known pathogenic variants in the AAAS gene (c.938T>C and c.1144_1147delTCTG). Our case presented a distal spinal amyotrophy with slow evolution and symptoms and signs of AS with a mutation in AAAS gen. Some cases of motor neuron disease, as ours, may be due to AAS. Early diagnosis is extremely important for symptomatic treatment.

Two Patients with an Identical Novel Mutation in the AAAS Gene and Similar Phenotype of Triple A (Allgrove) Syndrome

2010 ◽  
Vol 118 (08) ◽  
pp. 530-536 ◽  
Author(s):  
I. Krull ◽  
M. M.-Woelfle ◽  
K. Bärlocher ◽  
K. Koehler ◽  
A. Huebner ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Allgrove Syndrome ◽  
Similar Phenotype ◽  
Aaas Gene
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