[HTML][HTML] Huntington's disease: a clinical review

RAC Roos - Orphanet journal of rare diseases, 2010 - Springer
Huntington disease (HD) is a rare neurodegenerative disorder of the central nervous system
characterized by unwanted choreatic movements, behavioral and psychiatric disturbances …

The cerebral β‐amyloid angiopathies: hereditary and sporadic

…, SG van Duinen, RAC Roos… - Brain …, 2006 - Wiley Online Library
We review the clinical, radiologic, and neuropathologic features of the hereditary and sporadic
forms of cerebral amyloid angiopathy (Caa) associated with vascular deposition of the β‐…

Pathophysiology of chorea and bradykinesia in Huntington's disease

…, R Töpper, M Schwarz, RAC Roos - … : official journal of the …, 1999 - Wiley Online Library
This article reviews the neurophysiological abnormalities described in Huntington's disease.
Among the typical features of choreic movements are variable and random patterns of …

Unified Huntington's disease rating scale: reliability and consistency

…, R Albin, C Wernette, F Walker, RAC Roos… - Movement …, 1996 - iro.uiowa.edu
The Unified Huntington's Disease Rating Scale (UHDRS) was developed as a clinical rating
scale to assess four domains of clinical performance and capacity in HD: motor function, …

Biological and clinical manifestations of Huntington's disease in the longitudinal TRACK-HD study: cross-sectional analysis of baseline data

…, DR Langbehn, BR Leavitt, RAC Roos… - The Lancet …, 2009 - thelancet.com
Background Huntington's disease (HD) is an autosomal dominant, fully penetrant,
neurodegenerative disease that most commonly affects adults in mid-life. Our aim was to identify …

Amyloid β protein precursor gene and hereditary cerebral hemorrhage with amyloidosis (Dutch)

…, A Wehnert, M Vegter-Van der Vlis, RAC Roos - Science, 1990 - science.org
Human hereditary cerebral hemorrhage with amyloidosis of the Dutch type (HCHWA-D), an
autosomal dominant form of cerebral amyloid angiopathy (CAA), is characterized by …

Biological and clinical changes in premanifest and early stage Huntington's disease in the TRACK-HD study: the 12-month longitudinal analysis

SJ Tabrizi, RI Scahill, A Durr, RAC Roos… - The Lancet …, 2011 - thelancet.com
Background TRACK-HD is a prospective observational study of Huntington's disease (HD)
that examines disease progression in premanifest individuals carrying the mutant HTT gene …

Potential endpoints for clinical trials in premanifest and early Huntington's disease in the TRACK-HD study: analysis of 24 month observational data

SJ Tabrizi, R Reilmann, RAC Roos, A Durr… - The Lancet …, 2012 - thelancet.com
Background TRACK-HD is a prospective observational biomarker study in premanifest and
early Huntington's disease (HD). In this report we define a battery of potential outcome …

Aberrant splicing of HTT generates the pathogenic exon 1 protein in Huntington disease

…, DL Smith, RLM Faull, RAC Roos… - Proceedings of the …, 2013 - National Acad Sciences
Huntington disease (HD) is a devastating, late-onset, inherited neurodegenerative disorder
that manifests with personality changes, movement disorders, and cognitive decline. It is …

Weight loss in Huntington disease increases with higher CAG repeat number

…, P Brundin, T Stijnen, EHDI Study Group, RAC Roos - Neurology, 2008 - AAN Enterprises
Objective: Huntington disease (HD) is a hereditary neurodegenerative disorder caused by
an expanded number of CAG repeats in the huntingtin gene. A hallmark of HD is unintended …