Tubulinopathies encompass neurodevelopmental disorders caused by mutations in genes encoding for different isotypes of & alpha;- and & beta;-tubulins, the structural components of microtubules. Less frequently, mutations in tubulins may underlie neurodegenerative disorders. In the present study, we report two families, one with 11 affected individuals and the other with a single patient, carrying a novel, likely pathogenic, variant (p. Glu415Lys) in the TUBA4A gene (NM_006000). The phenotype, not previously described, is that of spastic ataxia. Our findings widen the phenotypic and genetic manifestations of TUBA4A variants and add a new type of spastic ataxia to be taken into consideration in the differential diagnosis.
A new genetic cause of spastic ataxia: the p.Glu415Lys variant in TUBA4A
Torella, Annalaura;Piluso, Giulio;Zanobio, Mariateresa;Zeuli, Roberta;Nigro, Vincenzo;
2023
Abstract
Tubulinopathies encompass neurodevelopmental disorders caused by mutations in genes encoding for different isotypes of & alpha;- and & beta;-tubulins, the structural components of microtubules. Less frequently, mutations in tubulins may underlie neurodegenerative disorders. In the present study, we report two families, one with 11 affected individuals and the other with a single patient, carrying a novel, likely pathogenic, variant (p. Glu415Lys) in the TUBA4A gene (NM_006000). The phenotype, not previously described, is that of spastic ataxia. Our findings widen the phenotypic and genetic manifestations of TUBA4A variants and add a new type of spastic ataxia to be taken into consideration in the differential diagnosis.I documenti in IRIS sono protetti da copyright e tutti i diritti sono riservati, salvo diversa indicazione.
