Men with Kennedy disease have a reduced risk of androgenetic alopecia

Sinclair, Rodney; Greenland, Karen J.; Egmond, Sylvia van; Hoedemaker, Carlijn; Chapman, Anna; Zajac, Jeffrey D

doi:10.1111/j.1365-2133.2007.08026.x

Cited by 41 publications

(23 citation statements)

References 26 publications

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“…The AR gene contains 8 exons and spans 80-100 kb and is located on chromosome Xq11-12 [1,20,22,26,44,51,53]. The polymorphic CAG repeat is located in exon 1 of the AR gene and starts at codon 58.…”

Section: Androgen Receptormentioning

confidence: 99%

“…About one third of the patients develop groin hernias [17]. The risk of androgenic alopecia is reduced in BSMA [1]. Fig.…”

Section: Endocriniummentioning

confidence: 99%

“…BSMA is caused by a polymorphic CAG tandem-repeat expansion of 40-62 repeats in exon 1 of the AR gene [1,20,22,26,44,51]. The size of the expanded CAG-repeats is negatively correlated with age at onset [20,26,55].…”

Section: Mutationmentioning

confidence: 99%

“…BSMA is caused by an expansion of an unstable cytosine-adenosin-guanosin (CAG) (polyglutamine (poly-G)) tandem-repeat in a coding sequence of the androgen-receptor (AR) gene [1]. Phenotypically, patients present with weakness and wasting of the facial, bulbar, and limb muscles, sensory disturbances, and endocrinological abnormalities [2][3][4].…”

Section: Introductionmentioning

confidence: 99%

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Perspectives of Kennedy's disease

Finsterer

2010

Journal of the Neurological Sciences

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Section: Androgen Receptormentioning

confidence: 99%

“…About one third of the patients develop groin hernias [17]. The risk of androgenic alopecia is reduced in BSMA [1]. Fig.…”

Section: Endocriniummentioning

confidence: 99%

Section: Mutationmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

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Perspectives of Kennedy's disease

Finsterer

2010

Journal of the Neurological Sciences

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“…SBMA is caused by an expansion of trinucleotide cytosine adenine guanine (CAG) repeats in exon 1 of the androgen receptor (AR) gene on chromosome Xq11-12 [15]. The mutant AR protein is prone to aggregation and forms intracellular inclusions in SBMA, resulting in toxicity to neurons [16].…”

Section: Introductionmentioning

confidence: 99%

The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy

Chen

Diao

et al. 2016

J Assist Reprod Genet

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Purpose To investigate the usefulness of preimplantation genetic diagnosis (PGD) for the patient affected by congenital contractural arachnodactyly (CCA) and spinal and bulbar muscular atrophy (SBMA). Methods Multiple displacement amplification (MDA) was performed for whole genome amplification (WGA) of biopsied trophectoderm (TE) cells. Direct mutation detection by sequencing and next-generation sequencing (NGS)-based single nucleotide polymorphism (SNP) haplotyping were used for CCA diagnosis. Direct sequencing of the PCR products and sex determination by amplification of sexdetermining region Y (SRY) gene were used for SBMA diagnosis. After PGD, the unaffected blastocyst (B4) was transferred in the following frozen embryo transfer (FET). Results In this PGD cycle, sixteen MII oocytes were inseminated by ICSI with testicular spermatozoa. Four blastocysts (B4, B5, B10, B13) were utilized for TE cell biopsy on day 5 after ICSI. After PGD, B4 was unaffected by CCA and SBMA. B5 was affected by CCA and carried SBMA. B10 was unaffected by CCA and carried SBMA. B13 was affected by CCA and unaffected by SBMA. B4 was the only unaffected blastocyst and transferred into the uterus for the subsequent FET cycle. The accuracy of PGD was confirmed by amniocentesis at 21 weeks of gestation. A healthy boy weighing 2850 g was born by cesarean section at the 38th week of gestation. Conclusions PGD is a valid screening tool for patienst affected of CCA and SBMA to prevent transmission of these genetic diseases from parents to children.Keywords Congenital contractural arachnodactyly . Spinal and bulbar muscular atrophy . PGD . Frozen embryo transfer Capsule A description of a PGD cycle for the diagnosis of CCA and SBMA, resulting in the birth of a healthy boy.Linjun Chen and Zhenyu Diao contributed equally to this work.

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Acquired Disorders of Hair

Messenger

Sinclair

Farrant³

et al. 2016

Rook's Textbook of Dermatology, Ninth Edition

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Hair is a defining feature of mammals. In other species hair confers important functions that affect survival. Most have been lost or are irrelevant in humans but the role of hair in social and sexual signalling in women and in men survives and thrives. Departures from cultural norms, either physiological or due to pathology, can therefore cause much concern and anxiety. Following an introduction to hair biology, this chapter considers the approach to the diagnosis and management of the patient with hair loss before discussing specific hair disorders. These include the various forms of hair loss due to hair follicle pathology, disturbances in hair cycling and hair shaft dystrophies, and disorders associated with excessive hair growth. The chapter concludes with a discussion of acquired alterations in hair pigmentation.

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Men with Kennedy disease have a reduced risk of androgenetic alopecia

Abstract: Men with KD have a reduced risk of AGA, likely to be due to a functional alteration in the AR caused by the polyglutamine expansion.

Cited by 41 publications

References 26 publications

Perspectives of Kennedy's disease

Perspectives of Kennedy's disease

The clinical application of preimplantation genetic diagnosis for the patient affected by congenital contractural arachnodactyly and spinal and bulbar muscular atrophy

Acquired Disorders of Hair

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