Eye movement changes in autosomal dominant spinocerebellar ataxias

2020 ◽  
Vol 41 (7) ◽  
pp. 1719-1734 ◽  
Author(s):  
Francesca Rosini ◽  
Elena Pretegiani ◽  
Carla Battisti ◽  
Maria Teresa Dotti ◽  
Antonio Federico ◽  
...  
Keyword(s):  
Eye Movement ◽  
Autosomal Dominant ◽  
Spinocerebellar Ataxias

scholarly journals Ataxias with Autosomal, X-Chromosomal or Maternal Inheritance

2009 ◽  
Vol 36 (4) ◽  
pp. 409-428 ◽  
Author(s):  
Josef Finsterer
Keyword(s):  
Ataxia Telangiectasia ◽  
Large Scale ◽  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Late Onset ◽  
Fragile X ◽  
Axonal Neuropathy ◽  
Friedreich Ataxia ◽  
Point Mutations ◽  
Spinocerebellar Ataxias

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.

scholarly journals Twenty-five years since the identification of the first SCA gene: history, clinical features and perspectives for SCA1

2018 ◽  
Vol 76 (8) ◽  
pp. 555-562 ◽  
Author(s):  
Carlos Roberto Martins Junior ◽  
Fabrício Castro de Borba ◽  
Alberto Rolim Muro Martinez ◽  
Thiago Junqueira Ribeiro de Rezende ◽  
Iscia Lopes Cendes ◽  
...  
Keyword(s):  
Clinical Features ◽  
Autosomal Dominant ◽  
Trinucleotide Repeat ◽  
Point Of View ◽  
Spinocerebellar Ataxias ◽  
Coding Region ◽  
The Past ◽  
Monogenic Diseases ◽  
Repeat Expansions ◽  
Core Features

ABSTRACT Spinocerebellar ataxias (SCA) are a clinically and genetically heterogeneous group of monogenic diseases that share ataxia and autosomal dominant inheritance as the core features. An important proportion of SCAs are caused by CAG trinucleotide repeat expansions in the coding region of different genes. In addition to genetic heterogeneity, clinical features transcend motor symptoms, including cognitive, electrophysiological and imaging aspects. Despite all the progress in the past 25 years, the mechanisms that determine how neuronal death is mediated by these unstable expansions are still unclear. The aim of this article is to review, from an historical point of view, the first CAG-related ataxia to be genetically described: SCA 1.

Inherited Ataxias

2015 ◽  
Author(s):  
Susan Perlman
Keyword(s):  
Autosomal Recessive ◽  
Autosomal Dominant ◽  
Friedreich Ataxia ◽  
Spinocerebellar Ataxias ◽  
Recessive Ataxia ◽  
Internet Resources ◽  
Genetic Abnormalities ◽  
Repeat Expansions ◽  
The Common ◽  
Inherited Ataxias

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.

scholarly journals MRI Signal Abnormalities of the Inferior Olivary Nuclei in Spinocerebellar Ataxia Type 2

2017 ◽  
Vol 9 (3) ◽  
pp. 267-271 ◽  
Author(s):  
Fumihito Yoshii ◽  
Hitoshi Tomiyasu ◽  
Ryo Watanabe ◽  
Masafuchi Ryo
Keyword(s):  
Spinocerebellar Ataxia ◽  
Autosomal Dominant ◽  
Spinocerebellar Ataxia Type ◽  
Proton Density ◽  
Spinocerebellar Ataxias ◽  
Spinocerebellar Ataxia Type 2 ◽  
Cerebellar Peduncles ◽  
Magnetic Resonance Imaging Mri ◽  
Inferior Olivary

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant spinocerebellar degeneration, associated with extended repeats of the trinucleotide CAG in the ATXN2 gene on the long arm of chromosome 12. Magnetic resonance imaging (MRI) of SCA2 showed significant atrophies of the brainstem, middle cerebellar peduncles, and cerebellum. We report two genetically proven SCA2 patients who showed hypertrophy of the inferior olivary nuclei on proton density- and T2-weighted MRI. This pattern has never been reported in patients with SCA1, SCA3, or SCA6, and may make it possible to differentiate SCA2 from other hereditary spinocerebellar ataxias.

Fluorescent Multiplex PCR: Fast Method for Autosomal Dominant Spinocerebellar Ataxias Screening

2005 ◽  
Vol 41 (6) ◽  
pp. 675-682 ◽  
Author(s):  
P. O. Bauer ◽  
S. E. Kotliarova ◽  
V. Matoska ◽  
Z. Musova ◽  
P. Hedvicakova ◽  
...  
Keyword(s):  
Multiplex Pcr ◽  
Autosomal Dominant ◽  
Fast Method ◽  
Spinocerebellar Ataxias ◽  
Fluorescent Multiplex Pcr

scholarly journals Eye Movement Abnormalities in Spinocerebellar Ataxias

10.5772/28545 ◽  
2012 ◽  
Author(s):  
Roberto Rodrguez-Labrada ◽  
Luis Velzquez-Prez
Keyword(s):  
Eye Movement ◽  
Spinocerebellar Ataxias

Autosomal Dominant Spinocerebellar Ataxias and Episodic Ataxias

2021 ◽  
pp. 2483-2559
Author(s):  
Franco Taroni ◽  
Luisa Chiapparini ◽  
Caterina Mariotti
Keyword(s):  
Autosomal Dominant ◽  
Spinocerebellar Ataxias

scholarly journals Machado-Joseph disease in Brazil: from the first descriptions to the emergence as the most common spinocerebellar ataxia

2012 ◽  
Vol 70 (8) ◽  
pp. 630-632 ◽  
Author(s):  
José Luiz Pedroso ◽  
Pedro Braga-Neto ◽  
João Radvany ◽  
Orlando Graziani Povoas Barsottini
Keyword(s):  
Nervous System ◽  
Spinocerebellar Ataxia ◽  
Autosomal Dominant ◽  
Pathophysiological Mechanism ◽  
Spinocerebellar Ataxias ◽  
Specific Therapy ◽  
Genetic Characteristics ◽  
New Knowledge ◽  
Machado Joseph Disease ◽  
First Descriptions

Machado-Joseph disease is an autosomal dominant inherited disorder of Azorean ancestry firstly described in 1972. Since then, several Brazilian researchers have studied clinical and genetic issues related to the disease. Nowadays, Machado-Joseph disease is considered the most common spinocerebellar ataxia worldwide. Machado-Joseph disease still has no specific therapy to arrest progression, but the unclear pathophysiological mechanism, features related to genetic characteristics, phenotype variability, apparently global involvement of the nervous system in the disease and the therapeutic challenges continue to attract investigators in the field of spinocerebellar ataxias. Brazilian researchers have distinguished themselves in the ongoing investigation seeking new knowledge about Machado-Joseph disease.

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