Autosomal Recessive Cerebellar Ataxias: Paving the Way toward Targeted Molecular Therapies
نویسندگان
چکیده
منابع مشابه
Autosomal recessive cerebellar ataxias
Autosomal recessive cerebellar ataxias (ARCA) are a heterogeneous group of rare neurological disorders involving both central and peripheral nervous system, and in some case other systems and organs, and characterized by degeneration or abnormal development of cerebellum and spinal cord, autosomal recessive inheritance and, in most cases, early onset occurring before the age of 20 years. This g...
متن کاملClinical features and molecular genetics of autosomal recessive cerebellar ataxias.
Among the hereditary ataxias, autosomal recessive spinocerebellar ataxias comprise a diverse group of neurodegenerative disorders. Clinical phenotypes vary from predominantly cerebellar syndromes to sensorimotor neuropathy, ophthalmological disturbances, involuntary movements, seizures, cognitive dysfunction, skeletal anomalies, and cutaneous disorders, among others. Molecular pathogenesis also...
متن کاملAutosomal recessive ataxias: 20 types, and counting.
More than 140 years after the first description of Friedreich ataxia, autosomal recessive ataxias have become one of the more complex fields in neurogenetics. Currently this group of diseases contains more than 20 clinical entities and an even larger number of associated genes. Some disorders are very rare, restricted to isolated populations, and others are found worldwide. An expressive number...
متن کاملIdentification of novel senataxin mutations in Chinese patients with autosomal recessive cerebellar ataxias by targeted next-generation sequencing
BACKGROUND Autosomal recessive cerebellar ataxias (ARCA) are a group of neurodegenerative disorders characterized by early onset of gait impairment, disturbed limb coordination, dysarthria, and eye movement abnormalities, most likely due to the degeneration of cerebellum, brainstem, and spinal cord. Despite of the rarity, ARCA are both clinically and genetically heterogeneous. To date, more tha...
متن کاملPaving the way toward better peer review
D espite the growth of postpublication forums such as a Faculty of 1000, scientific blogs and online commenting, editor-mediated peer review remains the primary means by which science is evaluated ahead of publication. The peer review process critically relies on the report that is provided by the reviewers and that the editors consider in detail and discuss prior to making a decision on the pa...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Neuron
سال: 2019
ISSN: 0896-6273
DOI: 10.1016/j.neuron.2019.01.049