Standards and Recommendations for Molecular Diagnostic Testing for Huntington Disease, the Autosomal Dominant Spinocerebellar Ataxias, and Friedreich Ataxia

2010 ◽  
pp. 191-202
Author(s):  
Nicholas T. Potter
2004 ◽  
Vol 6 (4) ◽  
pp. 285-289 ◽  
Author(s):  
Paola Ciotti ◽  
Emilio Di Maria ◽  
Emilia Bellone ◽  
Franco Ajmar ◽  
Paola Mandich

Author(s):  
Josef Finsterer

Heredoataxias are a group of genetic disorders with a cerebellar syndrome as the leading clinical manifestation. The current classification distinguishes heredoataxias according to the trait of inheritance into autosomal dominant, autosomal recessive, X-linked, and maternally inherited heredoataxias. The autosomal dominant heredoataxias are separated into spinocerebellar ataxias (SCA1-8, 10-15, 17-23, 25-30, and dentato-rubro-pallido-luysian atrophy), episodic ataxias (EA1-7), and autosomal dominant mitochondrial heredoataxias (Leigh syndrome, MIRAS, ADOAD, and AD-CPEO). The autosomal recessive ataxias are separated into Friedreich ataxia, ataxia due to vitamin E deficiency, ataxia due to Abeta-lipoproteinemia, Refsum disease, late-onset Tay-Sachs disease, cerebrotendineous xanthomatosis, spinocerebellar ataxia with axonal neuropathy, ataxia telangiectasia, ataxia telangiectasia-like disorder, ataxia with oculomotor apraxia 1 and 2, spastic ataxia of Charlevoix-Saguenay, Cayman ataxia, Marinesco-Sjögren syndrome, and autosomal recessive mitochondrial ataxias (AR-CPEO, SANDO, SCAE, AHS, IOSCA, MEMSA, LBSL CoQ-deficiency, PDC-deficiency). Only two of the heredoataxias, fragile X/tremor/ataxia syndrome, and XLSA/A are transmitted via an X-linked trait. Maternally inherited heredoataxias are due to point mutations in genes encoding for tRNAs, rRNAs, respiratory chain subunits or single large scale deletions/duplications of the mitochondrial DNA and include MELAS, MERRF, KSS, PS, MILS, NARP, and non-syndromic mitochondrial disorders. Treatment of heredoataxias is symptomatic and supportive and may have a beneficial effect in single patients.**Please see page 424 for abbreviation list.


2017 ◽  
Vol 21 (2) ◽  
pp. 66-73
Author(s):  
Hema L. Ramkumar ◽  
Harini V. Gudiseva ◽  
Kameron T. Kishaba ◽  
John J. Suk ◽  
Rohan Verma ◽  
...  

2015 ◽  
Author(s):  
Susan Perlman

The inherited ataxias are disorders that cause progressive imbalance as a result of pathology in the cerebellum and its various connecting pathways. Autosomal recessive ataxias include Friedreich ataxia, ataxia with isolated vitamin E deficiency, ataxia-telangiectasia, and autosomal recessive ataxia of Charlevoix-Saguenay, among others. A discussion of autosomal dominant ataxias covers spinocerebellar ataxias (SCA) types 1 through 14, dentatorubral pallidoluysian atrophy (DRPLA), and episodic ataxia (EA) syndromes. Clinical features, laboratory studies, differential diagnosis, and management of inherited ataxias are discussed. Tables describe both autosomal recessive ataxias and autosomal dominant ataxias (with known gene loci), childhood– or young adult–onset ataxias with ill-defined genetic abnormalities, phenotypic features that may indicate a specific genotype in the common autosomal dominant ataxias, and normal and expanded ranges of various repetitive nucleotide sequences in inherited ataxias. Figures include a diagrammatic representation of the type of repeat expansions associated with ataxias, aggregates of ataxin 3, a schematic of some of the proposed pathogenic mechanisms in the polyglutamine ataxias, and dystonia in a patient with SCA3. A sidebar offers selected Internet resources for information on ataxias. This chapter contains 64 references.


PLoS ONE ◽  
2014 ◽  
Vol 9 (2) ◽  
pp. e89395 ◽  
Author(s):  
Jiyoun Yeo ◽  
Erin L. Crawford ◽  
Thomas M. Blomquist ◽  
Lauren M. Stanoszek ◽  
Rachel E. Dannemiller ◽  
...  

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