Discordant repeat size and phenotype in Kennedy syndrome

Morrison, PJ; Mirakhur, M.; Patterson, V H

doi:10.1111/j.1399-0004.1998.tb02695.x

Cited by 10 publications

(1 citation statement)

References 11 publications

Supporting

Mentioning

Contrasting

Order By: Relevance

“…In the healthy population, the AR CAG repeat is highly polymorphic (15-35 repetitions) (294), with variations within human races (295); in SBMA patients the AR CAG repeat becomes expanded from 37 to a maximum of 72 repetition (282,294,296). An inverse correlation exists between polyQ size and SBMA age-of-onset, progression rate and disease severity (231,297), although exceptions to this rule (evidenced in siblings) suggest that some factors may act as disease modifiers (298). The common etiopathological denominator which associates the nine CAG/polyQ diseases is the presence of neurotoxic intracellular aggregates of the mutant proteins (299).…”

Section: DI a Mutation Of Ar The Molecular Basis Of The Diseasementioning

confidence: 99%

The Role of Sex and Sex Hormones in Neurodegenerative Diseases

et al. 2019

View full text Add to dashboard Cite

Neurodegenerative diseases (NDs) are a wide class of disorders of the central nervous system (CNS) with unknown etiology. Several factors were hypothesized to be involved in the pathogenesis of these diseases, including genetic and environmental factors. Many of these diseases show a sex prevalence and sex steroids were shown to have a role in the progression of specific forms of neurodegeneration. Estrogens were reported to be neuroprotective through their action on cognate nuclear and membrane receptors, while adverse effects of male hormones have been described on neuronal cells, although some data also suggest neuroprotective activities. The response of the CNS to sex steroids is a complex and integrated process that depends on (i) the type and amount of the cognate steroid receptor and (ii) the target cell type—either neurons, glia, or microglia. Moreover, the levels of sex steroids in the CNS fluctuate due to gonadal activities and to local metabolism and synthesis. Importantly, biochemical processes involved in the pathogenesis of NDs are increasingly being recognized as different between the two sexes and as influenced by sex steroids. The aim of this review is to present current state-of-the-art understanding on the potential role of sex steroids and their receptors on the onset and progression of major neurodegenerative disorders, namely, Alzheimer’s disease, Parkinson’s diseases, amyotrophic lateral sclerosis, and the peculiar motoneuron disease spinal and bulbar muscular atrophy, in which hormonal therapy is potentially useful as disease modifier.

show abstract

Section: DI a Mutation Of Ar The Molecular Basis Of The Diseasementioning

confidence: 99%

The Role of Sex and Sex Hormones in Neurodegenerative Diseases

et al. 2019

View full text Add to dashboard Cite

show abstract

Kennedy Disease

Riccio

2014

Encyclopedia of Special Education

View full text Add to dashboard Cite

Onset Manifestations of Spinal and Bulbar Muscular Atrophy (Kennedy’s Disease)

Finsterer

Sorarù

2015

J Mol Neurosci

View full text Add to dashboard Cite

Spinal and bulbar muscular atrophy (SBMA) is regarded as a disorder with adult onset between third and fifth decade of life. However, there is increasing evidence that SBMA may start already before adulthood. The present study investigated the following: (1) Which clinical manifestations have been described so far in the literature as initial manifestations? (2) Which was the age at onset of these manifestations? and (3) Is age at onset dependent on the CAG-repeat length if non-motor manifestations are additionally considered? Data for this review were identified by searches of MEDLINE using appropriate search terms. Onset manifestations in SBMA can be classified as frequent, rare, motor, non-motor, or questionable. Frequent are muscle weakness, cramps, fasciculations/twitching, tremor, dysarthria, dysphagia, or gynecomastia. Rare are myalgia, easy fatigability, exercise intolerance, polyneuropathy, hyper-CKemia, under-masculinized genitalia, scrotal hypospadias, microphallus, laryngospasm, or oligospermia. Questionable manifestations include sensory disturbances, cognitive impairment, increased pituitary volume, diabetes, reduced tongue pressure, elevated creatine-kinase, or low androgens/high estrogens. Age at onset is highly variable ranging from 4-76 years. Non-motor manifestations develop usually before motor manifestations. Age at onset depends on what is considered as an onset manifestation. Considering non-motor onset manifestations, age at onset is independent of the CAG-repeat size. In conclusion, age at onset of SBMA depends on what is regarded as onset manifestation. If non-motor manifestations are additionally considered, age at onset is independent of the CAG-repeat length. Since life expectancy is hardly reduced in SBMA, re-investigation of patients from published studies with regard to their initial disease profiles is recommended.

show abstract

Discordant repeat size and phenotype in Kennedy syndrome

Cited by 10 publications

References 11 publications

The Role of Sex and Sex Hormones in Neurodegenerative Diseases

The Role of Sex and Sex Hormones in Neurodegenerative Diseases

Kennedy Disease

Onset Manifestations of Spinal and Bulbar Muscular Atrophy (Kennedy’s Disease)

Contact Info

Product

Resources

About