| Identifier |
wh_ch47_p2532_3 |
| Title |
Walsh & Hoyt: Autosomal Recessive Ataxias |
| Creator |
Parashkev Nachev, PhD, MRCP(UK); Christopher Kennard, PhD, FRCP, FMed Sci |
| Affiliation |
(PN) University College London; (CK) University of Oxford |
| Subject |
Neurodegenerative Diseases; Metabolic Diseases; Adult; Cerebellar Disorders; Autosomal Recessive Ataxias |
| Description |
A number of recessively inherited conditions with onset in infancy and childhood are characterized in part by ataxia. The ataxia may be intermittent, occurring from the accumulation of neurotoxic circulating metabolites, such as ammonia, or it may be persistent and progressive. These disorders are described in Chapter 46, and only brief mention is made here of those progressive conditions that can present in early adulthood. Hexaminidase A deficiency. Vitamin E deficiency. Abetalipoproteinemia (Bassen-Kornzweig disease). Ataxia with vitamin E deficiency(AVED). Ataxia telangiectasia (AT). Friedreichs ataxia (FA). |
| Date |
2005 |
| Language |
eng |
| Format |
application/pdf |
| Type |
Text |
| Source |
Walsh and Hoyt's Clinical Neuro-Ophthalmology, 6th Edition |
| Relation is Part of |
Walsh and Hoyt's Clinical Neuro-Ophthalmology Walsh and Hoyt's Clinical Neuro-Ophthalmology |
| Collection |
Neuro-ophthalmology Virtual Education Library: NOVEL http://NOVEL.utah.edu |
| Publisher |
Wolters Kluwer Health, Philadelphia |
| Holding Institution |
Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E SLC, UT 84112-5890 |
| Rights Management |
Copyright 2005. For further information regarding the rights to this collection, please visit: https://NOVEL.utah.edu/about/copyright |
| ARK |
ark:/87278/s6k96h0c |
| Setname |
ehsl_novel_whts |
| ID |
186134 |
| Reference URL |
https://collections.lib.utah.edu/ark:/87278/s6k96h0c |
