ArticleNeurology. Genetics2025
Autosomal Recessive Cerebellar Ataxia-27 Caused by a Novel Loss-of-Function Variant of Ganglioside-Induced Differentiation Associated Protein 2 in a Spanish Family.
Article in Neurology. Genetics, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
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8 authors.
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Abstract
Background and Objectives: Our aim has been to describe a patient with a novel loss-of-function variant of the ganglioside-induced differentiation associated protein 2 ( Methods: We studied the virtual gene panel of hereditary ataxia with onset in adulthood (version 4.15) of PanelApp by means of whole exome sequencing. The validation of the variant of interest found was performed by Sanger sequencing. A segregation study was performed on family members. Results: The patient is a man who started at age 32 years with dysarthria soon followed by cerebellar ataxia. On evolution, spasticity, cervical dystonia, and cognitive impairment were observed. A premature stop codon variant was detected in homozygosity in exon 2 of the Discussion: This null variant in the
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