Infantile Onset of Spinocerebellar Ataxia Type 5 (SCA-5) in a 6 Month Old with Ataxic Cerebral Palsy

Abstract Spinocerebellar ataxia type 5 (SCA-5) is a predominantly slowly progressive adult onset ataxia. We describe a child with a presentation of ataxic cerebral palsy (CP) and developmental delay at 6 months of age. Genetic testing confirmed a c.812C>T p.(Thr271Ile) mutation within the SPTBN2 gene. Seven previous cases of infantile onset SCA-5 are reported in the literature, four of which had a CP presentation. Early onset of SCA-5 presents with ataxic CP and is a rare cause of cerebral palsy.

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Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5

Annals of Clinical and Translational Neurology ◽

10.1002/acn3.51345 ◽

2021 ◽

Vol 8 (4) ◽

pp. 956-963

Author(s):

Romina Romaniello ◽

Andrea Citterio ◽

Elena Panzeri ◽

Filippo Arrigoni ◽

Marta De Rinaldis ◽

...

Keyword(s):

Gene Mutation ◽

Spinocerebellar Ataxia ◽

Early Onset ◽

Spinocerebellar Ataxia Type ◽

Intragenic Deletion

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

10.21203/rs.3.rs-125754/v1 ◽

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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Phenotype variability and early onset ataxia symptoms in spinocerebellar ataxia type 7: comparison and correlation with other spinocerebellar ataxias

Arquivos de Neuro-Psiquiatria ◽

10.1590/0004-282x20140192 ◽

2015 ◽

Vol 73 (1) ◽

pp. 18-21 ◽

Cited By ~ 2

Author(s):

Marcus Vinicius Cristino de Albuquerque ◽

José Luiz Pedroso ◽

Pedro Braga Neto ◽

Orlando Graziani Povoas Barsottini

Keyword(s):

Spinocerebellar Ataxia ◽

Early Onset ◽

Clinical Presentation ◽

Age Of Onset ◽

Cag Repeat ◽

Spinocerebellar Ataxia Type ◽

Spinocerebellar Ataxias ◽

Phenotype Variability ◽

Spinocerebellar Ataxia Type 7 ◽

Early Onset Ataxia

The spinocerebellar ataxias (SCA) are a group of neurodegenerative disorders characterized by heterogeneous clinical presentation. Spinocerebellar ataxia type 7 (SCA7) is caused by an abnormal CAG repeat expansion and includes cerebellar signs associated with visual loss and ophthalmoplegia. Marked anticipation and dynamic mutation is observed in SCA7. Moreover, phenotype variability and very early onset of symptoms may occur. In this article, a large series of Brazilian patients with different SCA subtypes was evaluated, and we compared the age of onset of SCA7 with other SCA. From the 26 patients with SCA7, 4 manifested their symptoms before 10-year-old. Also, occasionally the parents may have the onset of symptoms after their children. In conclusion, our study highlights the genetic anticipation phenomenon that occurs in SCA7 families. Patients with very early onset ataxia in the context of a remarkable family history, must be considered and tested for SCA7.

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