Paola Mandich
A5037354053- Hereditary Neurological Disorders
- Genetic Neurodegenerative Diseases
- Neurological diseases and metabolism
- Amyotrophic Lateral Sclerosis Research
- Neurogenetic and Muscular Disorders Research
- Neurological disorders and treatments
- Parkinson's Disease Mechanisms and Treatments
- Mitochondrial Function and Pathology
- RNA regulation and disease
- Botulinum Toxin and Related Neurological Disorders
- Peripheral Neuropathies and Disorders
- Genetics and Neurodevelopmental Disorders
- RNA Research and Splicing
- Cellular transport and secretion
- Neuroscience and Neuropharmacology Research
- Alzheimer's disease research and treatments
- Cellular Mechanics and Interactions
- Genetic and Kidney Cyst Diseases
- Genomics and Rare Diseases
- Prion Diseases and Protein Misfolding
- Signaling Pathways in Disease
- DNA Repair Mechanisms
- Fibromyalgia and Chronic Fatigue Syndrome Research
- Cancer, Hypoxia, and Metabolism
- RNA and protein synthesis mechanisms
Ospedale Policlinico San Martino
2016-2025
University of Genoa
2016-2025
John Wiley & Sons (United States)
2024
National Institute of Health
2015
Istituto delle Scienze Neurologiche di Bologna
2013
University of Bologna
2013
John Wiley & Sons (Germany)
2013
Pediatrics and Genetics
2008-2011
Medical Genetics Center
2009
RELX Group (Netherlands)
2002
Objective To identify shared polygenic risk and causal associations in amyotrophic lateral sclerosis (ALS). Methods Linkage disequilibrium score regression Mendelian randomization were applied a large‐scale, data‐driven manner to explore genetic correlations relationships between >700 phenotypic traits ALS. Exposures consisted of publicly available genome‐wide association studies (GWASes) summary statistics from MR Base LD‐hub . The outcome data came the recently published ALS GWAS...
A large hexanucleotide (GGGGCC) repeat expansion in the first intron of C9ORF72, a gene located on chromosome 9p21, has been recently reported to be responsible for ∼40% familial amyotrophic lateral sclerosis cases European ancestry. The aim current article was describe phenotype carrying by providing detailed clinical description affected from representative multi-generational kindreds, and analysing age onset, gender ratio survival cohort patients with sclerosis. We collected DNA analysed...
Corticobasal degeneration is a sporadic form of tauopathy, involving the cerebral cortex and extrapyramidal motor system. A series affected subjects was genotyped for set genetic markers along tau protein gene. specific haplotype significantly overrepresented in patients versus controls. This same already reported association with progressive supranuclear palsy. These data show that corticobasal palsy, addition to several clinical, pathological, molecular features, may have background.
Polyglutamine-coding (CAG)n repeat expansions in seven different genes cause spinocerebellar ataxias. Although the size of expansion is negatively correlated with age at onset, it accounts for only 50-70% its variability. To find other factors involved this variability, we performed a regression analysis 1255 affected individuals identified (spinocerebellar ataxia types 1, 2, 3, 6 and 7), recruited through European Consortium on Spinocerebellar Ataxias, to determine whether onset influenced...
After extensive evaluation, one-third of patients affected by polyneuropathy remain undiagnosed and are labelled as having chronic idiopathic axonal polyneuropathy, which refers to a sensory or sensory-motor, axonal, slowly progressive neuropathy unknown origin. Since neuropathy/neuronopathy is identified in all with genetically confirmed RFC1 cerebellar ataxia, neuropathy, vestibular areflexia syndrome, we speculated that expansions could underlie fraction neuropathies also diagnosed...
Corticobasal degeneration is a sporadic form of tauopathy, involving the cerebral cortex and extrapyramidal motor system. A series affected subjects was genotyped for set genetic markers along tau protein gene. specific haplotype significantly overrepresented in patients versus controls. This same already reported association with progressive supranuclear palsy. These data show that corticobasal palsy, addition to several clinical, pathological, molecular features, may have background. Ann...
Sonography of the Median Nerve in Charcot-Marie-Tooth DiseaseCarlo Martinoli1, Angelo Schenone2, Stefano Bianchi3, Paola Mandich2, Claudia Caponetto2, Michele Abbruzzese2 and Lorenzo E. Derchi1Audio Available | Share
The objective of this study is to assess the genetic distribution Charcot-Marie-Tooth (CMT) disease in Campania, a region Southern Italy. We analyzed cohort 197 index cases and reported type frequency mutations for whole CMT population each electrophysiological group (CMT1, CMT2, hereditary neuropathy with susceptibility pressure palsies [HNPP]) familial isolated cases. Genetic diagnosis was achieved 148 patients (75.1%) higher success rate HNPP CMT1 than CMT2. Only four genes (PMP22, GJB1,...
Hereditary spastic paraplegia (HSP) refers to a group of genetically heterogeneous neurodegenerative motor neuron disorders characterized by progressive age-dependent loss corticospinal tract function, lower limb spasticity, and weakness. Recent clinical use next generation sequencing (NGS) methodologies suggests that they facilitate the diagnostic approach HSP, but power NGS as first-tier procedure is unclear. The larger-than-expected genetic heterogeneity-there are over 80 potential...
Mutations in the small heat-shock protein 27 kDa 1 (HSPB1) and 22 8 (HSPB8) genes were associated with distal hereditary motor neuropathy (dHMN) axonal form of Charcot-Marie-Tooth disease type 2 (CMT2). Here we report clinical molecular evaluation an Italian dHMN CMT2 cohort to establish HSPB1 HSPB8 mutation occurrence features. One hundred sixty-seven patients or studied. exons 3 analysis was carried out through DHPLC direct sequencing each variant chromatogram. exon analyzed by sequencing....
Genetic discoveries in amyotrophic lateral sclerosis (ALS) have a significant impact on deciphering molecular mechanisms of motor neuron degeneration but, despite recent advances, the etiology most sporadic cases remains elusive. Several cellular contribute to ALS, including RNA metabolism, interactions between neurons and nonneuronal cells, seeding misfolded protein with prion-like propagation. In this scenario, importance turnover degradation homeostasis gained increased recognition....
Abstract Hereditary transthyretin amyloidosis (ATTRv, v for variant) is a late-onset, autosomal dominant disease caused by progressive extracellular deposition of amyloid fibrils, leading to organ damage and death. For other late-onset fatal diseases, as Huntington’s disease, protocols pre-symptomatic genetic testing (PST) are available since decades. ATTRv, limited experience has been reported date, mostly gathered before the availability approved therapies. We aimed at developing...
Data are reported from the Italian CMT Registry.The Registry is a dual registry where patient registers and chooses reference center attending clinician collects minimal dataset of information administers Charcot-Marie-Tooth (CMT) Examination/Neuropathy Score. Entered data encrypted.Overall, 1012 patients had registered (535 females) 711 received genetic diagnosis. Demyelinating (65.3%) was more common than axonal CMT2 (24.6%) intermediate (9.0%). The PMP22 duplication most frequent mutation...