منابع مشابه
Natural history of Huntington disease.
IMPORTANCE Understanding the natural history of Huntington disease will inform patients and clinicians on the disease course and researchers on the design of clinical trials. OBJECTIVE To determine the longitudinal change in clinical features among individuals with Huntington disease compared with controls. DESIGN, SETTING, AND PARTICIPANTS Prospective, longitudinal cohort study at 44 resea...
متن کاملNatural history of disease in the YAC128 mouse reveals a discrete signature of pathology in Huntington disease.
Models of Huntington disease (HD) recapitulate some neuropathological features of the disease. However, a global natural history of neuroanatomy in a mouse expressing full-length huntingtin has not been conducted. We investigated neuropathological changes in the YAC128 murine model of HD using magnetic resonance imaging (MRI). Structures affected in human HD are reduced in the YAC128 mice both ...
متن کاملNatural history of Hartnup disease.
Hartnup disease was diagnosed in 12 children and 3 of their 15 sibs in the course of routine urine screening of 6-week-old infants in New South Wales. These children were followed for up to 8 years, during which time there were only two clinical episodes which might be ascribed to Hartnup disease. The mental development of all the children was normal. 10 had height centiles less than the midpar...
متن کاملThe natural history of disease
Ministry prepared dutifully to administer the service, and Britain obtained health care free at the point of delivery for all-a system which, despite exceeding all original financial estimates, became, in fact, the most cost-efficient in the world. Bevan realised a socialist dream, but Honigsbaum claims that the real ideological roots of National Health provision were the Christian principles o...
متن کاملDiagnosis of Huntington disease.
BACKGROUND Huntington disease (HD) is a rare, progressive, and fatal autosomal dominant neurodegenerative disorder, typically of adult onset. METHODS We reviewed the literature concerning the molecular diagnosis of HD. RESULTS The discovery of the genetic etiology of HD, a trinucleotide expansion mutation on chromosome 4p, has led to the development of increasingly reliable and valid diagno...
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ژورنال
عنوان ژورنال: JAMA Neurology
سال: 2013
ISSN: 2168-6149
DOI: 10.1001/jamaneurol.2013.4408