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.

scholarly journals A Patient with Spinocerebellar Ataxia 2 Presenting with Multiple System Atrophy

2020 ◽  
Vol 38 (1) ◽  
pp. 33-36
Author(s):  
Youg Sung Kim ◽  
Sangjin Lee ◽  
Hae-Won Shin
Keyword(s):  
Multiple System Atrophy ◽  
Spinocerebellar Ataxia ◽  
Autosomal Dominant ◽  
Clinical Manifestations ◽  
Trinucleotide Repeats ◽  
Autosomal Dominant Cerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 2 ◽  
Cag Trinucleotide Repeats

Spinocerebellar ataxia type-2 (SCA2) is an autosomal dominant cerebellar ataxia that occurs due to expanded CAG trinucleotide repeats in the ATXN2 gene. Clinical features of parkinsonism in SCA2 vary from phenotypes of levodopa-responsive parkinsonism to multiple system atrophy. We described a patient with SCA2 presenting typical clinical manifestations of multiple system atrophy-c type with levodopa responsive parkinsonism whose dopamine transporter (DAT) image showed atypically reduced DAT uptake in in the striatum.

scholarly journals Generation of an isogenic, gene-corrected control cell line of the spinocerebellar ataxia type 2 patient-derived iPSC line H271

2016 ◽  
Vol 16 (1) ◽  
pp. 180-183 ◽  
Author(s):  
Adele G. Marthaler ◽  
Benjamin Schmid ◽  
Alisa Tubsuwan ◽  
Ulla B. Poulsen ◽  
Alexander F. Engelbrecht ◽  
...  
Keyword(s):  
Cell Line ◽  
Spinocerebellar Ataxia ◽  
Control Cell ◽  
Spinocerebellar Ataxia Type ◽  
Ipsc Line ◽  
Spinocerebellar Ataxia Type 2 ◽  
Control Cell Line

Spinocerebellar Ataxia Type 2 in a Turkish Family

2007 ◽  
Vol 22 (7) ◽  
pp. 891-894 ◽  
Author(s):  
Eray Dirik ◽  
Uluc Yis ◽  
Nazli Basak ◽  
Esra Soydan ◽  
Orkide Hüdaoğlu ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 2 ◽  
Turkish Family

Normal SCA2 alleles influences age at onset of spinocerebellar ataxia type 2 in Cuban patients

2008 ◽  
Vol 119 ◽  
pp. S173
Author(s):  
L.E. Almaguer Mederos ◽  
N. Falcón ◽  
Y. Almira ◽  
Y. Zaldivar ◽  
D. Almarales ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Age At Onset ◽  
Spinocerebellar Ataxia Type ◽  
Spinocerebellar Ataxia Type 2

scholarly journals A clinical report of the massive CAG repeat expansion in spinocerebellar ataxia type 2: Severe onset in a Mexican child and review previous cases

2020 ◽  
Vol 43 (3) ◽  
Author(s):  
José Sánchez-Corona ◽  
Sergio Alberto Ramirez-Garcia ◽  
Gema Castañeda-Cisneros ◽  
Susan Andrea Gutiérrez-Rubio ◽  
Víctor Volpini ◽  
...  
Keyword(s):  
Spinocerebellar Ataxia ◽  
Repeat Expansion ◽  
Cag Repeat ◽  
Spinocerebellar Ataxia Type ◽  
Clinical Report ◽  
Spinocerebellar Ataxia Type 2 ◽  
Cag Repeat Expansion ◽  
Mexican Child

scholarly journals Genetic Rhabdomyolysis within the Spectrum of the Spinocerebellar Ataxia Type 2 Responsive to Pregabalin

2021 ◽  
Author(s):  
Fabian Rossi ◽  
Joe Ma ◽  
Nina Tsakadze ◽  
Lourdes Benes-Lima ◽  
Julio Araque Gonzalez ◽  
...  
Keyword(s):  
Cerebellar Ataxia ◽  
Spinocerebellar Ataxia ◽  
Clinical Presentation ◽  
Spinocerebellar Ataxia Type ◽  
Adult Onset ◽  
Spinocerebellar Ataxia Type 2 ◽  
First Report ◽  
Recurrent Rhabdomyolysis

Abstract BackgroundSpinocerebellar Ataxia type 2 is a slowly progressive adult onset ataxia with a broad clinical presentation. Case presentationWe describe a man with Spinocerebellar Ataxia type 2 with chronic, severe, and recurrent rhabdomyolysis, as part of the cerebellar ataxia genetic spectrum. Initially rhabdomyolysis was refractory to multiple medications, but entirely resolved and remained in chronic remission with pregabalin. ConclusionThis is the first report of Spinocerebellar Ataxia type 2 associated with chronic, severe, recurrent rhabdomyolysis as part of its genetic phenotype responsive to pregabalin.

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