A5006299520- Botulinum Toxin and Related Neurological Disorders
- Genetic Neurodegenerative Diseases
- Neurological disorders and treatments
- Genetics and Neurodevelopmental Disorders
- Parkinson's Disease Mechanisms and Treatments
- Genomics and Rare Diseases
- Neurological diseases and metabolism
- Neurogenetic and Muscular Disorders Research
- RNA modifications and cancer
- Mitochondrial Function and Pathology
- Lysosomal Storage Disorders Research
- Olfactory and Sensory Function Studies
- Muscle and Compartmental Disorders
- Cardiomyopathy and Myosin Studies
- RNA regulation and disease
- Congenital heart defects research
- Genomic variations and chromosomal abnormalities
- Cellular transport and secretion
- Biochemical Analysis and Sensing Techniques
- Glycogen Storage Diseases and Myoclonus
Fondazione IRCCS Istituto Neurologico Carlo Besta
2022-2025
Abstract Dystonia is a rare-disease trait for which large-scale genomic investigations are still underrepresented. Genetic heterogeneity among patients with unexplained dystonia warrants interrogation of entire genome sequences, but this has not yet been systematically evaluated. To significantly enhance our understanding the genetic contribution to dystonia, we (re)analyzed 2,874 whole-exome sequencing (WES), 564 whole-genome (WGS), as well 80 fibroblast-derived proteomics datasets,...
Abstract The EIF4G1 gene has been considered an autosomal dominant cause of Parkinson disease (PD), even if its role is still debated. objective this study was to describe the phenotype and α-synuclein distribution in peripheral tissues 2 related PD patients (mother daughter), who are carriers same variant exon 10 (c.1216G>A, p.Gly406Arg). We used Burghart Sniffin Sticks test for olfactory function. α-Synuclein mucosa skin samples analyzed using RT-QuIC, double immunofluorescence,...
Neuronal ceroid lipofuscinoses (NCLs) are genetically heterogeneous neurodegenerative disorders, characterized by progressive cognitive and motor decline, epilepsy, visual impairment, shortened life-expectancy. CLN6-related NCLs include both late-infantile adult myoclonic form. We report a 21-year-old patient, with mild developmental delay, who developed occipital seizures at 14 years, subsequently cortical myoclonus, photosensitivity low higher frequencies. Overall, the picture suited...
Introduction/Aims HyperCKemia is considered a hallmark of neuromuscular diseases. It can be either isolated or associated with cramps, myalgia, weakness, myoglobinuria, rhabdomyolysis, suggesting metabolic myopathy. The aim this work was to investigate possible genetic causes in order help diagnose patients recurrent hyperCKemia clinical suspicion inherited Methods A cohort 139 (90 adults and 49 children) analyzed using custom panel containing 54 genes hyperCKemia. Results definite diagnosis...
ABSTRACT Background and Objective Early‐onset Parkinson's disease (EOPD) commonly recognizes a genetic basis; thus, patients with EOPD are often addressed to diagnostic testing based on next‐generation sequencing (NGS) of PD‐associated multigene panels. However, NGS interpretation can be challenging in setting, few studies have this issue so far. Methods We retrospectively collected data from 648 PD age at onset younger than 55 years who underwent minimal shared panel 15 PD‐related genes, as...
Background: Spinocerebellar ataxia 21 (SCA21) is a rare neurological disorder caused by heterozygous variants in TMEM240. A growing, yet still limited number of reports suggested that hyperkinetic movements should be considered defining component the disease. Case Series: We describe two newly identified families harboring recurrent pathogenic TMEM240 p.Pro170Leu variant. Both index patients and mother first proband developed movement disorders, manifesting as myoclonic dystonia...