Perspectives of Kennedy's disease

Finsterer, Josef

doi:10.1016/j.jns.2010.08.025

Cited by 67 publications

(78 citation statements)

References 79 publications

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“…With regard to female carriers, about 50% of the cases do not present with clinical manifestations 1. The other half may present with fasciculations, minimal distal weakness, muscle cramps, tremor, and elevated CPK later in life 2.…”

Section: Discussionmentioning

confidence: 99%

“…X-linked spinal and bulbar muscular atrophy (SBMA) is a slowly progressive, degenerative disorder of the lower motor neurons caused by an expanded cytosine, adenine, guanine (CAG) repeat length in the first exon of the gene encoding the androgen receptor, located on chromosome X (Xq11–12) 1–8. Phenotypically, patients present with weakness and wasting of the facial, bulbar, and limb muscles, sensory disturbances, and endocrinological abnormalities.…”

Section: Introductionmentioning

confidence: 99%

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Head and Arm Tremor in X-linked Spinal and Bulbar Muscular Atrophy

Aicua

Verhagen

Arenaza

et al. 2014

Tremor and Other Hyperkinetic Movements

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Head and Arm Tremor in X-linked Spinal and Bulbar Muscular Atrophy

Aicua

Verhagen

Arenaza

et al. 2014

Tremor and Other Hyperkinetic Movements

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“…Involvement of the brainstem motor nuclei results in bulbar muscle weakness [15], which is a typical feature of SBMA. Though bulbar involvement usually follows limb involvement, it is occasionally the presenting symptom.…”

Section: Clinical Featuresmentioning

confidence: 99%

Kennedy disease (X-linked recessive bulbospinal neuronopathy): A comprehensive review from pathophysiology to therapy

2017

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Acknowledgments: the authors thank AFM-Téléthon, Téléthon Biobank, Institut pour la Recherche sur la Moelle épinière et l'Encéphale (IRME), Association pour la Recherche sur la SLA (ARSla) and the University of Padova for their research support.Kennedy disease (X-Linked recessive Bulbospinal Neuronopathy): a comprehensive review from pathophysiology to therapy. AbstractKennedy's disease, also known as spinal and bulbar muscular atrophy (SBMA), is a rare, adult-onset, Xlinked recessive neuromuscular disease. It is caused by expansion of a CAG repeat sequence in exon 1 of the androgen-receptor (AR) gene, encoding a poly-glutamine (polyQ) tract. Poly-Q-expanded AR accumulates in nuclei and initiates degeneration and loss of motor neurons and dorsal root ganglia. The disease has been retained to be a pure lower motor neuron disease for a long time, but recently the presence of important hyper-Creatine-Kinase-emia and of myopathic alterations on muscle biopsy has suggested the presence of a primary myopathy underlying a wide proportion of clinical manifestations. The disease, that affects male adults, is characterized by muscle weakness and atrophy localized proximally in the limbs and by bulbar involvement. Sensory disturbances are associated to the motor phenotype but may be subclinical. The most frequent systemic symptom is gynecomastia related to androgen insensitivity, but other abnormalities, such as heart rhythm and urinary disturbances, have also been reported. The course of the disease is slowly progressive with normal life expectancy. The diagnosis of SBMA is based on genetic testing, with 38 CAG repeats retained to be pathogenic. Even though several therapeutic attempts have been made in mouse models, no effective disease modifying therapy is available but symptomatic therapy is beneficial for the management of weakness, fatigability and bulbar symptoms.

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“…With a prevalence of 1:100,000, age of onset is typically 30-50 years [133]. Motor neuron degeneration in the spinal cord and brain stem of affected males leads to weakness and atrophy of the limb muscles, as well as the facial and bulbar muscles leading to problems with speech and swallowing [134,135]. Some males also have enlarged breast tissue (gynecomastia), testicular atrophy, and reduced fertility, indicative of mild androgen insensitivity [135].…”

Section: Spinocerebellar Ataxias (Scas)mentioning

confidence: 99%

“…AR alleles of healthy individuals normally have 11-35 repeats, whereas individuals with SBMA typically have >40 repeats [134]. Expansion size inversely correlates with both the age of onset and disease severity, but variability remains, indicating other factors influence disease manifestation [136,137].…”

Section: Spinocerebellar Ataxias (Scas)mentioning

confidence: 99%