Your browser doesn't support javascript.
loading
Early onset and novel features in a spinal and bulbar muscular atrophy patient with a 68 CAG repeat.
Grunseich, Christopher; Kats, Ilona R; Bott, Laura C; Rinaldi, Carlo; Kokkinis, Angela; Fox, Derrick; Chen, Ke-Lian; Schindler, Alice B; Mankodi, Ami K; Shrader, Joseph A; Schwartz, Daniel P; Lehky, Tanya J; Liu, Chia-Ying; Fischbeck, Kenneth H.
Afiliación
  • Grunseich C; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA. Electronic address: christopher.grunseich@nih.gov.
  • Kats IR; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
  • Bott LC; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA; Department of Cell and Molecular Biology, Karolinska Institute, 17177 Stockholm, Sweden.
  • Rinaldi C; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
  • Kokkinis A; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
  • Fox D; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
  • Chen KL; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
  • Schindler AB; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
  • Mankodi AK; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
  • Shrader JA; Rehabilitation Medicine Department, Clinical Center, NIH, Bethesda, MD 20892, USA.
  • Schwartz DP; Electromyography Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
  • Lehky TJ; Electromyography Section, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
  • Liu CY; Radiology and Imaging Sciences, Clinical Center, NIH, Bethesda, MD 20892, USA.
  • Fischbeck KH; Neurogenetics Branch, National Institute of Neurological Disorders and Stroke, NIH, Bethesda, MD 20892, USA.
Neuromuscul Disord ; 24(11): 978-81, 2014 Nov.
Article en En | MEDLINE | ID: mdl-25047668
Spinal and bulbar muscular atrophy (SBMA) is an X-linked neuromuscular disease caused by a trinucleotide (CAG) repeat expansion in the androgen receptor gene. Patients with SBMA have weakness, atrophy, and fasciculations in the bulbar and extremity muscles. Individuals with CAG repeat lengths greater than 62 have not previously been reported. We evaluated a 29year old SBMA patient with 68 CAGs who had unusually early onset and findings not seen in others with the disease. Analysis of the androgen receptor gene confirmed the repeat length of 68 CAGs in both peripheral blood and fibroblasts. Evaluation of muscle and sensory function showed deficits typical of SBMA, and in addition the patient had manifestations of autonomic dysfunction and abnormal sexual development. These findings extend the known phenotype associated with SBMA and shed new insight into the effects of the mutated androgen receptor.
Asunto(s)
Palabras clave
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Receptores Androgénicos / Repeticiones de Trinucleótidos / Trastornos Musculares Atróficos Tipo de estudio: Etiology_studies Límite: Adult / Humans / Male Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2014 Tipo del documento: Article
Texto completo
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Banco de datos: MEDLINE Asunto principal: Receptores Androgénicos / Repeticiones de Trinucleótidos / Trastornos Musculares Atróficos Tipo de estudio: Etiology_studies Límite: Adult / Humans / Male Idioma: En Revista: Neuromuscul Disord Asunto de la revista: NEUROLOGIA Año: 2014 Tipo del documento: Article