neurodegenerative disorder

CiapponiLab

CiapponiLab

Drosophila melanogaster is a highly conserved animal system, similar with vertebrates in many basic biological, physiological, and neurological aspects. Drosophila genome is 60% homologous to that of humans, less redundant, and about 75% of the genes responsible for human diseases have homologs in flies. These features, together with a brief generation time, low maintenance costs, and the availability of powerful genetic tools, allow the fruit fly to be eligible to study complex pathways relevant in biomedical research, including cancer and neuromuscular diseases.

The cerebellar topography of attention sub-components in spinocerebellar ataxia type 2

Spinocerebellar ataxia type 2 (SCA2) is an autosomal dominant neurodegenerative disease characterized by a progressive cerebellar syndrome and multiple-domain cognitive impairments. The cerebellum is known to contribute to distinct functional networks related to higher-level functions. The aims of the present study were to investigate the different sub-components of attention and to analyse possible correlations between attention deficits and specific cerebellar regions in SCA2 patients.

Biallelic SQSTM1 mutations in early-onset, variably progressive neurodegeneration

OBJECTIVE: To characterize clinically and molecularly an early-onset, variably
progressive neurodegenerative disorder characterized by a cerebellar syndrome
with severe ataxia, gaze palsy, dyskinesia, dystonia, and cognitive decline
affecting 11 individuals from 3 consanguineous families.
METHODS: We used whole-exome sequencing (WES) (families 1 and 2) and a combined
approach based on homozygosity mapping and WES (family 3). We performed in vitro
studies to explore the effect of the nontruncating SQSTM1 mutation on protein

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