SBMA AR
Disease ID
SBMA
Gene ID
AR
Updated
Feb 5, 2025
v2.2.1
v2.2.1
Disease
Name
Spinal and bulbar muscular atrophy, Kennedy Disease
Inheritance
X-linked recessive Description
Prevalence
1 30,000
Locus
Details
Alleles
Ref. Motif
GCA
Pathogenic (ref.)
GCA
Pathogenic (gene)
AGC
gnomAD
References
Direct supporting references for info on this page.
2
Advancing Epidemiology and Genetic Approaches for the Treatment of Spinal and Bulbar Muscular Atrophy: Focus on Prevalence in the Indigenous Population of Western Canada.
Harry,Wilton-Clark, Ammar,Al-Aghbari, Jessica,Yang, Toshifumi,Yokota
Genes · 2023-08-17
pmid:376286854
Unexpected frequency of the pathogenic AR CAG repeat expansion in the general population.
Matteo,Zanovello, Kristina,Ibáñez, Anna-Leigh,Brown, Prasanth,Sivakumar, Alessandro,Bombaci, Liana,Santos, Joke J F A,van Vugt, Giuseppe,Narzisi, Ramita,Karra, Sonja W,Scholz, Jinhui,Ding, J Raphael,Gibbs, Adriano,Chiò, Clifton,Dalgard, Ben,Weisburd, Michael G,Hanna, Linda,Greensmith, Hemali,Phatnani, Jan H,Veldink, Bryan J,Traynor, James,Polke, Henry,Houlden, Pietro,Fratta, Arianna,Tucci
Brain : a journal of neurology · 2023-07-03
pmid:367979986
Multiple founder effects in spinal and bulbar muscular atrophy (SBMA, Kennedy disease) around the world.
A,Lund, B,Udd, V,Juvonen, P M,Andersen, K,Cederquist, M,Davis, C,Gellera, C,Kölmel, L O,Ronnevi, A D,Sperfeld, S A,Sörensen, L,Tranebjaerg, L,Van Maldergem, M,Watanabe, M,Weber, L,Yeung, M L,Savontaus
European journal of human genetics : EJHG · 2001-06-01
pmid:114361247
A family with early-onset and rapidly progressive X-linked spinal and bulbar muscular atrophy.
A,Echaniz-Laguna, E,Rousso, M,Anheim, M,Cossée, C,Tranchant
Neurology · 2005-04-26
pmid:158517468
A Case of Very Late Onset Spinobulbar Muscular Atrophy with Normal Creatine Kinase
Joseph,Conway, Yuebing,Li, Sakhi,Bhansali
RRNMF Neuromuscular Journal · 2024-12-17
doi:10.17161/2tmg0f259
Sequencing analysis of the spinal bulbar muscular atrophy CAG expansion reveals absence of repeat interruptions.
Pietro,Fratta, Toby,Collins, Sally,Pemble, Suran,Nethisinghe, Anny,Devoy, Paola,Giunti, Mary G,Sweeney, Michael G,Hanna, Elizabeth M C,Fisher
Neurobiology of aging · 2013-09-13
pmid:2404196710
Comprehensive genetic diagnosis of tandem repeat expansion disorders with programmable targeted nanopore sequencing.
Igor,Stevanovski, Sanjog R,Chintalaphani, Hasindu,Gamaarachchi, James M,Ferguson, Sandy S,Pineda, Carolin K,Scriba, Michel,Tchan, Victor,Fung, Karl,Ng, Andrea,Cortese, Henry,Houlden, Carol,Dobson-Stone, Lauren,Fitzpatrick, Glenda,Halliday, Gianina,Ravenscroft, Mark R,Davis, Nigel G,Laing, Avi,Fellner, Marina,Kennerson, Kishore R,Kumar, Ira W,Deveson
Science advances · 2022-03-04
pmid:3524511011
CAG repeat contraction in the androgen receptor gene in three brothers with mental retardation.
R F,Kooy, E,Reyniers, K,Storm, L,Vits, D,van Velzen, P E,de Ruiter, A O,Brinkmann, A,de Paepe, P J,Willems
American journal of medical genetics · 1999-07-30
pmid:1039822912
Kennedy disease in two sisters with biallelic CAG expansions of the androgen receptor gene.
Kai Ivar,Müller, Øivind,Nilssen, Maria,Nebuchenykh, Sissel,Løseth, Christoffer,Jonsrud, Gry,Hoem, Marijke,Van Ghelue, Kjell Arne,Arntzen
Neuromuscular disorders : NMD · 2021-11-19
pmid:3492280213
Phenotypic differences in a large family with Kennedy's disease from the Middle Black Sea region of Turkey.
Hatice,Karaer, Yüksel,Kaplan, Semiha,Kurt, Asli,Gundogdu, Begüm,Erdoğan, Nazli A,Başak
Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Diseases · 2010-01-01
pmid:2018451614
Tandem repeats mediating genetic plasticity in health and disease.
Anthony J,Hannan
Nature reviews. Genetics · 2018-02-05
pmid:2939870315
Clinical and neuroimaging review of triplet repeat diseases.
Ryo,Kurokawa, Mariko,Kurokawa, Akihiko,Mitsutake, Moto,Nakaya, Akira,Baba, Yasuhiro,Nakata, Toshio,Moritani, Osamu,Abe
Japanese journal of radiology · 2022-09-28
pmid:3616976816
Pathogenesis and therapy of spinal and bulbar muscular atrophy (SBMA).
Masahisa,Katsuno, Fumiaki,Tanaka, Hiroaki,Adachi, Haruhiko,Banno, Keisuke,Suzuki, Hirohisa,Watanabe, Gen,Sobue
Progress in neurobiology · 2012-05-15
pmid:2260904517
Androgen receptor gene mutations in X-linked spinal and bulbar muscular atrophy.
A R,La Spada, E M,Wilson, D B,Lubahn, A E,Harding, K H,Fischbeck
Nature · 1991-07-04
pmid:206238018
Bulbospinal muscular atrophy: Kennedy's disease.
Michael,Sinnreich, Christopher Jon,Klein
Archives of neurology · 2004-08-01
pmid:15313856Additional Literature
Additional literature related to this locus.
Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem
repeats, and disease, in medline format)