Clinical consequences of isolating the gene for Huntington's disease.
نویسنده
چکیده
منابع مشابه
Behavioral study of effects of mesenchymal stem cells transplant on motor deficits improvement in animal model of Huntington\'s disease
Introduction: As an inherited neurodegenerative disease, Huntington's disease is accompanied with wide neuronal degeneration in neostriatum and neocortex. Progress of the disease causes disabling clinical effects on movements, recognition and physiology of the body, and finally results in death. At this stage of knowledge we are, there is no effective therapeutic strategy for diminishing the mo...
متن کاملCardiac Dysautonomia in Huntington's Disease.
Huntington's disease is a fatal, hereditary, neurodegenerative disorder best known for its clinical triad of progressive motor impairment, cognitive deficits and psychiatric disturbances. Although a disease of the central nervous system, mortality surveys indicate that heart disease is a leading cause of death. The nature of such cardiac abnormalities remains unknown. Clinical findings indicate...
متن کاملThe role of tau in the pathological process and clinical expression of Huntington’s disease
Huntington's disease is a neurodegenerative disorder caused by an abnormal CAG repeat expansion within exon 1 of the huntingtin gene HTT. While several genetic modifiers, distinct from the Huntington's disease locus itself, have been identified as being linked to the clinical expression and progression of Huntington's disease, the exact molecular mechanisms driving its pathogenic cascade and cl...
متن کاملآشنایی با فنیل کتونوری
Background: Phenylketonuria is an inherited metabolic disease. It is genetic disorder autosomal recessive type. It is caused by absent or deficiency Phenylalanine hydroxylase enzyme activity that converts Phenylalanine to Tyrosine. It leads to increasing Phenylalanine in the blood. Tyrosine is important for production of some neurotransmitters. So it caused deficiencies of dopamine and serotoni...
متن کاملSubtle changes among presymptomatic carriers of the Huntington's disease gene.
OBJECTIVES To compare the neurological and psychometric characteristics of presymptomatic gene carriers and non-gene carriers who are at risk for developing Huntington's disease so as to characterise early signs of disease and to identify markers of neurological function that could be used to assess the impact of experimental therapies on the progression of disease, even among those who are cli...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
برای دانلود متن کامل این مقاله و بیش از 32 میلیون مقاله دیگر ابتدا ثبت نام کنید
ثبت ناماگر عضو سایت هستید لطفا وارد حساب کاربری خود شوید
ورودعنوان ژورنال:
- BMJ
دوره 307 6901 شماره
صفحات -
تاریخ انتشار 1993