Huntington disease
Huntington disease is devastating to patients and their families—with autosomal dominant
inheritance, onset typically in the prime of adult life, progressive course, and a combination of …
inheritance, onset typically in the prime of adult life, progressive course, and a combination of …
Cockayne syndrome: review of 140 cases
… No CS I patient has ever fathered or borne a child, although one patient reported to have
CS had a successful pregnancy [561 (this patient also had normal intelligence and other …
CS had a successful pregnancy [561 (this patient also had normal intelligence and other …
Juvenile onset Huntington's disease—clinical and research perspectives
… Recent studies have shown that a minority of adults at risk for HD choose to undergo
presymptomatic genetic testing [Nance, 1999b]; this reinforces the thought that minors should not …
presymptomatic genetic testing [Nance, 1999b]; this reinforces the thought that minors should not …
Detection of Huntington's disease decades before diagnosis: the Predict-HD study
Objective: The objective of the Predict-HD study is to use genetic, neurobiological and refined
clinical markers to understand the early progression of Huntington’s disease (HD), prior to …
clinical markers to understand the early progression of Huntington’s disease (HD), prior to …
[PDF][PDF] Mitochondrial polymorphisms significantly reduce the risk of Parkinson disease
Mitochondrial (mt) impairment, particularly within complex I of the electron transport system,
has been implicated in the pathogenesis of Parkinson disease (PD). More than half of …
has been implicated in the pathogenesis of Parkinson disease (PD). More than half of …
CAG repeat expansion in Huntington disease determines age at onset in a fully dominant fashion
Objective: Age at onset of diagnostic motor manifestations in Huntington disease (HD) is
strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG …
strongly correlated with an expanded CAG trinucleotide repeat. The length of the normal CAG …
Linkage of familial amyotrophic lateral sclerosis with frontotemporal dementia to chromosome 9q21-q22
…, W Sailor, MC Huang, A Hossain, JR Daube, M Nance… - Jama, 2000 - jamanetwork.com
ContextOccasionally, 2 or more major neurodegenerative diseases arise simultaneously.
An understanding of the genetic bases of combined disorders, such as amyotrophic lateral …
An understanding of the genetic bases of combined disorders, such as amyotrophic lateral …
Preparing for preventive clinical trials: the Predict-HD study
… EPVegter-Van der Vlis M Oculomotor defects in patients with Huntington's disease and their
… EPVegter-Van der Vlis M Oculomotor defects in patients with Huntington's disease and their …
… EPVegter-Van der Vlis M Oculomotor defects in patients with Huntington's disease and their …
Cognitive performance of GBA mutation carriers with early-onset PD: The CORE-PD study
Objective: To assess the cognitive phenotype of glucocerebrosidase (GBA) mutation carriers
with early-onset Parkinson disease (PD). Methods: We administered a neuropsychological …
with early-onset Parkinson disease (PD). Methods: We administered a neuropsychological …
[PDF][PDF] Age at onset in two common neurodegenerative diseases is genetically controlled
To identify genes influencing age at onset (AAO) in two common neurodegenerative diseases,
a genomic screen was performed for AAO in families with Alzheimer disease (AD; n=449) …
a genomic screen was performed for AAO in families with Alzheimer disease (AD; n=449) …