Last Posted: Sep 02, 2021
- NGS in Hereditary Ataxia: When Rare Becomes Frequent.
Galatolo Daniele et al. International journal of molecular sciences 2021 22(16)
- DINAX- a comprehensive database of inherited ataxias.
Chaudhari Sima et al. Computers in biology and medicine 2020 Sep 126104000
- Molecular genetic testing for hereditary ataxia: What every neurologist should know.
Wallace Stephanie E et al. Neurology. Clinical practice 2018 Feb 8(1) 27-32
- A founder mutation p.H701P identified as a major cause of SPG7 in Norway.
Rydning S L, et al. European journal of neurology 2016 1
- Friedreich's Ataxia (FRDA) is an extremely rare cause of autosomal recessive ataxia in Chinese Han population.
Zeng Junsheng, et al. Journal of the neurological sciences 2015 4 (1-2) 124-6
- Hereditary ataxia
From NCATS Genetic and Rare Diseases Information Center
- Mutations of the puratrophin-1 (PLEKHG4) gene on chromosome 16q22.1 are not a common genetic cause of cerebellar ataxia in a European population.
Wieczorek Stefan, et al. Journal of human genetics 2006 0 (4) 363-7
- Impact of presymptomatic genetic testing for hereditary ataxia and neuromuscular disorders.
Smith Corrine O, et al. Archives of neurology 2004 6 (6) 875-80
- Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families.
Brusco Alfredo, et al. Archives of neurology 2004 5 (5) 727-33
- A simple method for the detection of neurologic disorders associated with CAG repeat expansion using PCR-microtiter plate hybridization.
Lee Y, et al. Journal of biotechnology 2002 5 (3) 215-23
Rare Disease PHGKB is an online, continuously updated, searchable database of published scientific literature, CDC and NIH resources, and other information that address the public health impact and translation of genomic and other precision health discoveries into improved health outcomes related to rare diseases...more
Selected Rare Diseases
- Alpha-1 Antitrypsin Deficiency
- Amyotrophic Lateral Sclerosis
- Brugada Syndrome
- Cerebral Palsy
- Cystic Fibrosis
- Duchenne Muscular Dystrophy
- Erythema Multiforme
- Familial Mediterranean Fever
- Fragile X Syndrome
- Gaucher Disease
- Graves Disease
- Huntington Disease
- Myasthenia Gravis
- Retinitis Pigmentosa
- Severe Combined Immunodeficiency
Disclaimer: Articles listed in the Public Health Knowledge Base are selected by the CDC Office of Public Health Genomics to provide current awareness of the literature and news. Inclusion in the update does not necessarily represent the views of the Centers for Disease Control and Prevention nor does it imply endorsement of the article's methods or findings. CDC and DHHS assume no responsibility for the factual accuracy of the items presented. The selection, omission, or content of items does not imply any endorsement or other position taken by CDC or DHHS. Opinion, findings and conclusions expressed by the original authors of items included in the update, or persons quoted therein, are strictly their own and are in no way meant to represent the opinion or views of CDC or DHHS. References to publications, news sources, and non-CDC Websites are provided solely for informational purposes and do not imply endorsement by CDC or DHHS.