Infantile-Onset Spinocerebellar Ataxia Type 5 (SCA5) with Optic Atrophy and Peripheral Neuropathy

Cerebellum. 2021 Jun;20(3):481-483. doi: 10.1007/s12311-020-01214-7. Epub 2020 Nov 14.

Authors

Carlotta Spagnoli¹, Daniele Frattini², Fabrizio Gozzi³, Susanna Rizzi², Grazia Gabriella Salerno², Luca Cimino³, Carlo Fusco^{2

4}

Affiliations

¹ Department of Pediatrics, Child Neurology Unit, AUSL-IRCCS di Reggio Emilia, Reggio Emilia, Italy. carlotta.spagnoli@ausl.re.it.
² Department of Pediatrics, Child Neurology Unit, AUSL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
³ Ocular Immunology Unit, AUSL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.
⁴ Department of Pediatrics, Pediatric Neurophysiology Laboratory, Azienda USL-IRCCS di Reggio Emilia, Reggio Emilia, Italy.

PMID: 33188499
DOI: 10.1007/s12311-020-01214-7

No abstract available

Publication types

Letter
Comment

MeSH terms

Ataxia
Cerebral Palsy
Genetic Diseases, Inborn
Humans
Infant
Optic Atrophy*
Peripheral Nervous System Diseases*
Spinocerebellar Ataxias* / genetics
Spinocerebellar Degenerations*

Supplementary concepts

Cerebral Palsy, Ataxic, Autosomal Recessive
Infantile onset spinocerebellar ataxia