Neurobiology of Disease, 2014 Spinocerebellar ataxias (SCAs) are hereditary diseases leading to Purkinje cell degeneration and cerebellar dysfunction. Most forms of SCA are caused by expansion of CAG repeats similar to other polyglutamine disorders such as Huntington's disease.
Jingmin Ji +5 more
doaj +1 more source
Validation of a score tool for measurement of histological severity in juvenile dermatomyositis and association with clinical severity of disease. [PDF]
, 2013 OBJECTIVES: To study muscle biopsy tissue from patients with juvenile dermatomyositis (JDM) in order to test the reliability of a score tool designed to quantify the severity of histological abnormalities when applied to biceps humeri in addition to ...
Pilkington, Clarissa A +32 more
core +1 more source
Perinatal insults and neurodevelopmental disorders may impact Huntington's disease age of diagnosis [PDF]
, 2018 Introduction: The age of diagnosis of Huntington's disease (HD) varies among individuals with the same HTT CAG-repeat expansion size. We investigated whether early-life events, like perinatal insults or neurodevelopmental disorders, influence the ...
Rodrigues FB +10 more
core +1 more source
Neurobiology of Disease, 2016 Ataxin-2 (ATXN2) polyglutamine domain expansions of large size result in an autosomal dominantly inherited multi-system-atrophy of the nervous system named spinocerebellar ataxia type 2 (SCA2), while expansions of intermediate size act as polygenic risk ...
Nesli Ece Sen +10 more
doaj +1 more source
Juvenile Huntington's Disease: A Case Report and a Review of Diagnostic Challenges. [PDF]
Cureus, 2023 Yu SY, Gough S, Niyibizi A, Sheikh M.
europepmc +1 more source
, 2019 Huntington's disease (HD) is a fatal genetic neurodegenerative disorder. It has mainly been considered a movement disorder with cognitive symptoms and these features have been associated with pathology of the striatum and cerebral cortex.
Cheong, Rachel Y., +3 more
core +1 more source
Stability effects on results of diffusion tensor imaging analysis by reduction of the number of gradient directions due to motion artifacts: an application to presymptomatic Huntington's disease. [PDF]
, 2011 In diffusion tensor imaging (DTI), an improvement in the signal-to-noise ratio (SNR) of the fractional anisotropy (FA) maps can be obtained when the number of recorded gradient directions (GD) is increased.
Müller, HP +6 more
core
Antidopaminergic Medication is Associated with More Rapidly Progressive Huntington's Disease
, 2015 Background: Huntington's disease (HD) is an autosomal dominant neurodegenerative disorder leading to progressive motor, cognitive and functional decline. Antidopaminergic medications (ADMs) are frequently used to treat chorea and behavioural disturbances
Squitieri, F. +10 more
core +1 more source
Irritability in huntington's disease: factor analysis of Snaith's irritability scale
, 2017 Background Elevated levels of irritability are reported to occur in a number of neurological conditions, including Huntington's disease (HD), a genetic neurodegenerative disorder.
Underwood, Mandy +7 more
core +1 more source
Clinical and genetic analysis of juvenile-onset Huntington's disease: 10 cases report
Chinese Journal of Contemporary Neurology and Neurosurgery, 2017 Objective To investigate the clinical features and dynamic mutation of 10 cases with juvenile-onset Huntington's disease (HD). Methods The cytosine-adenine-guanine (CAG) repeats of IT15 gene were detected by polymerase chain reaction (PCR) and capillary
Ying HAO +4 more
doaj