Cognitive and neurological aspects of sex chromosome aneuploidies

Hong, David S.; Reiss, Allan L.

doi:10.1016/s1474-4422(13)70302-8

Cited by 143 publications

(158 citation statements)

References 132 publications

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“…Neuroimaging studies comparing children in early puberty with Turner syndrome (XO) and Klinefelter's syndrome (XXY) to agematched controls, indicate a dose-dependency of the X chromosome to decreased parieto-occipital and increased temporo-insular gray matter volumes Hong and Reiss, 2014). A similar study also reported smaller hippocampal volumes in XXY boys compared with agematched controls (Rose et al, 2004).…”

Section: Sex Differences Related To Sex Chromosomes and Hormones And mentioning

confidence: 95%

Sex as a Biological Variable: Who, What, When, Why, and How

Bale

Epperson

2016

Neuropsychopharmacol

119

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The inclusion of sex as a biological variable in research is absolutely essential for improving our understanding of disease mechanisms contributing to risk and resilience. Studies focusing on examining sex differences have demonstrated across many levels of analyses and stages of brain development and maturation that males and females can differ significantly. This review will discuss examples of animal models and clinical studies to provide guidance and reference for the inclusion of sex as an important biological variable relevant to a Neuropsychopharmacology audience.

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Section: Sex Differences Related To Sex Chromosomes and Hormones And mentioning

confidence: 95%

Sex as a Biological Variable: Who, What, When, Why, and How

Bale

Epperson

2016

Neuropsychopharmacol

119

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“…Regarding the fact that KS patients also have language disabilities, some studies said the hyperintensity in gray matter was more in the right side, but other studies showed no difference; here most of the cases had an equal tremor in both sides (1).…”

Section: Discussionmentioning

confidence: 92%

“…It is usually defined by the existence of extra X chromosome (s) in the affected males (1). 47, XXY is the most common genotype of KS patients, although other genotypes such as 48, XXXY and 46, XY/46, XXY mosaicism are also reported.…”

Section: Introductionmentioning

confidence: 99%

Rubral Tremor Associated with Klinefelter Syndrome; a Case Report and Literature Review

et al. 2017

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Introduction: Previous case series suggested an association between Klinefelter syndrome (KS) and tremor, but most reported cases had ET-like tremor. Also, previous studies did not suggest any suitable treatments for the tremor. Case Presentation: The current report presented a case of KS that his rubral tremor led to the KS diagnosis at the age of 43. Regular anti-tremor medication was immediately started along with testosterone therapy; none of which were effective on the tremor. Next, a table of KS patients was provided with a tremor to elucidate the type of tremor and medical treatments in the patients. The result of the literature review of the most effective therapy for tremor in such patients showed that primidone, propranolol, gabapentin, and levetiracetam were not always effective, while deep brain stimulation of the ventral intermediate nucleus showed promising results. Conclusion: Since tremor in KS has an unknown origin, it may not be responsive to regular anti-tremor medication; therefore, deep brain stimulation (DBS) of the ventral intermediate (VIM) may be the best therapy for such patients

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“…This gender difference is mainly due to variability in sex chromosome and sex hormone neuronal action. Genetic studies revealed that X-chromosome carry genes which expressions enhance visuospatial, executive and/or social cognitive tasks, whereas genes on Y-chromosome are more responsible for behavioral sexual differentiation [37].…”

Section: Gender Cognitive Variabilitymentioning

confidence: 99%

Sex Hormones and Alzheimer’s Disease

Bahnasy¹,

El-Heneedy²,

El-Seidy³

2018

Sex Hormones in Neurodegenerative Processes and Diseases

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Alzheimer's disease (AD) is the most common type of dementia and the most common neurodegenerative disorder of elderly. It is not an accelerated form of aging but it is characterized by distinct temporospatial brain pathological changes, including amyloid plaques accumulation, neurofibrillary tangles deposition, synaptic loss and neuronal death with gross brain atrophy. These changes result in persistent progressive memory and cognitive decline interfering with the usual daily activities. AD is a multifactorial disorder results from the interaction of genetic, epigenetic, environmental and lifestyle factors. Estrogen, progesterone and androgen effects are important building stones in AD pathogenesis, and their effect in brain modulation and development results in different gender susceptibility to the disease. These sex hormones whether gonadal or neurosteroids (synthesized locally in the brain) play important neuroprotective roles influencing the individual's vulnerability to AD development, rate of mild cognitive impairment (MCI)/AD conversion and speed of AD progression. Despite the little therapeutic implications of hormonal replacement therapy in AD treatment, yet this topic still represents a challenging hopeful way to construct a strategy for the development of personalized, gender-specific AD management.

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Cognitive and neurological aspects of sex chromosome aneuploidies

Cited by 143 publications

References 132 publications

Sex as a Biological Variable: Who, What, When, Why, and How

Sex as a Biological Variable: Who, What, When, Why, and How

Rubral Tremor Associated with Klinefelter Syndrome; a Case Report and Literature Review

Sex Hormones and Alzheimer’s Disease

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