[HTML][HTML] Dentatorubral-pallidoluysian atrophy: an update
Background Dentatorubral-pallidoluysian atrophy (DRPLA) is a rare, autosomal dominantly
inherited disorder characterized by myoclonus, epilepsy, ataxia, and dementia. Diagnosis is …
inherited disorder characterized by myoclonus, epilepsy, ataxia, and dementia. Diagnosis is …
[HTML][HTML] Cognitive changes in the spinocerebellar ataxias due to expanded polyglutamine tracts: a survey of the literature
E Lindsay, E Storey - Brain sciences, 2017 - mdpi.com
The dominantly-inherited ataxias characterised by expanded polyglutamine tracts—
spinocere bellar ataxias (SCAs) 1, 2, 3, 6, 7, 17, dentatorubral pallidoluysian atrophy …
spinocere bellar ataxias (SCAs) 1, 2, 3, 6, 7, 17, dentatorubral pallidoluysian atrophy …
Huntington's disease and Huntington's disease-like syndromes: an overview
F Gövert, SA Schneider - Current opinion in neurology, 2013 - journals.lww.com
Huntington's disease and Huntington's disease-like syndromes... : Current Opinion in Neurology
Huntington's disease and Huntington's disease-like syndromes: an overview : Current Opinion in …
Huntington's disease and Huntington's disease-like syndromes: an overview : Current Opinion in …
Myoclonus‐ataxia syndromes: a diagnostic approach
Background A myriad of disorders combine myoclonus and ataxia. Most causes are genetic
and an increasing number of genes are being associated with myoclonus‐ataxia syndromes …
and an increasing number of genes are being associated with myoclonus‐ataxia syndromes …
[HTML][HTML] DRPLA: understanding the natural history and developing biomarkers to accelerate therapeutic trials in a globally rare repeat expansion disorder
Dentatorubral–pallidoluysian atrophy (DRPLA) is a rare neurodegenerative disorder caused
by CAG repeat expansions in the atrophin-1 gene and is inherited in an autosomal dominant …
by CAG repeat expansions in the atrophin-1 gene and is inherited in an autosomal dominant …
Basal ganglia volumes: MR-derived reference ranges and lateralization indices for children and young adults
A Wyciszkiewicz, MA Pawlak - The neuroradiology journal, 2014 - journals.sagepub.com
Previous studies indicate rightward asymmetry of the caudate nucleus (CN) volume and
leftward asymmetry of the putamen (PN) and globus pallidus (GP). This study aimed to …
leftward asymmetry of the putamen (PN) and globus pallidus (GP). This study aimed to …
Atrophin‐1 Function and Dysfunction in Dentatorubral–Pallidoluysian Atrophy
B Nowak, E Kozlowska, W Pawlik… - Movement …, 2023 - Wiley Online Library
Dentatorubral–pallidoluysian atrophy (DRPLA) is a rare, incurable genetic disease that
belongs to the group of polyglutamine (polyQ) diseases. DRPLA is the most common in the …
belongs to the group of polyglutamine (polyQ) diseases. DRPLA is the most common in the …
Polyglutamine disease proteins: Commonalities and differences in interaction profiles and pathological effects
M Bonsor, O Ammar, S Schnoegl, EE Wanker… - …, 2024 - Wiley Online Library
Currently, nine polyglutamine (polyQ) expansion diseases are known. They include
spinocerebellar ataxias (SCA1, 2, 3, 6, 7, 17), spinal and bulbar muscular atrophy (SBMA) …
spinocerebellar ataxias (SCA1, 2, 3, 6, 7, 17), spinal and bulbar muscular atrophy (SBMA) …
The cerebellar white matter lesions in dentatorubral-pallidoluysian atrophy
A Sugiyama, N Sato, Y Kimura, H Fujii… - Journal of the …, 2020 - Elsevier
Dentatorubral-pallidoluysian atrophy (DRPLA) is an autosomal dominant
neurodegenerative disorder caused by a CAG nucleotide repeat expansion in atrophin 1. A …
neurodegenerative disorder caused by a CAG nucleotide repeat expansion in atrophin 1. A …
Xeroderma pigmentosum is a definite cause of Huntington's disease‐like syndrome
H Garcia‐Moreno, H Fassihi… - Annals of Clinical …, 2018 - Wiley Online Library
Xeroderma pigmentosum is characterized by cutaneous, ophthalmological, and
neurological features. Although it is typical of childhood, late presentations can mimic …
neurological features. Although it is typical of childhood, late presentations can mimic …