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Akademický článek

Altered molecular and cellular mechanisms in KIF5A-associated neurodegenerative or neurodevelopmental disorders

Publikováno v: Cell Death and Disease, Vol 15, Iss 9, Pp 1-16 (2024)

Abstract Mutations targeting distinct domains of the neuron-specific kinesin KIF5A associate with different neurodegenerative/neurodevelopmental disorders, but the molecular bases of this clinical heterogeneity are unknown. We characterised five key

Externí odkaz: https://doaj.org/article/4ee9d6c2a3624724948ed40d302b0625

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Akademický článek

Multifaceted and Age-Dependent Phenotypes Associated With Biallelic PNPLA6 Gene Variants: Eight Novel Cases and Review of the Literature

Autor: Lorenzo Nanetti, Daniela Di Bella, Stefania Magri, Mario Fichera, Elisa Sarto, Anna Castaldo, Alessia Mongelli, Silvia Baratta, Silvia Fenu, Marco Moscatelli, Maria Teresa Bonati, Andrea Martinuzzi, Caterina Mariotti, Franco Taroni

Publikováno v: Frontiers in Neurology, Vol 12 (2022)

A wide spectrum of neurodegenerative diseases has been associated with pathogenic variants in the PNPLA6 (patatin-like phospholipase domain-containing protein 6) gene, including spastic paraplegia type 39, Gordon—Holmes, Boucher—Neuhauser, Oliver

Externí odkaz: https://doaj.org/article/8957f548cd91461c8ea823ea37956d21

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Digenic inheritance of STUB1 variants and TBP polyglutamine expansions explains the incomplete penetrance of SCA17 and SCA48

Autor: Franco Taroni, Caterina Mariotti, Pietro Cortelli, Daniela Di Bella, Stefania Magri, Cinzia Gellera, Roberto Fancellu, Elisa Sarto, Benedetta Ricci, Alessia Mongelli, Lorenzo Nanetti, Luisa Sambati, Alfredo Brusco, Maria Grazia Bruzzone, Elena Rizzo

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics. 24(1)

Purpose: This study aimed to unravel the genetic factors underlying missing heritability in spinocerebellar ataxia type 17 (SCA17) caused by polyglutamine-encoding CAG/CAA repeat expansions in the TBP gene. Alleles with >49 CAG/CAA repeats are fully

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::cfb8af79f4ac3abfdbb3f125e9641691
https://pubmed.ncbi.nlm.nih.gov/34906452

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Spastic paraplegia type 46: novel and recurrent GBA2 gene variants in a compound heterozygous Italian patient with spastic ataxia phenotype

Autor: Daniela Di Bella, Lorenzo Nanetti, Franco Taroni, Elisa Sarto, Marta Gatti, Caterina Mariotti, Stefania Magri

Publikováno v: Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology. 42(11)

Spastic paraplegia type 46 (SPG46) is a rare autosomal recessive hereditary spastic paraplegia, caused by mutations in the non-lysosomal glucosylceramidase β2 (GBA2) gene. Worldwide, approximately twenty SPG46 families have been identified so far. W

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::17b576384c00e98b644bb4c2e2ec7feb
https://pubmed.ncbi.nlm.nih.gov/34251556

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Digenic inheritance of STUB1 variants and TBP polyglutamine expansions solves the enigma of SCA17 and SCA48 incomplete penetrance

Autor: Franco Taroni, Elisa Sarto, Luisa Sambati, Caterina Mariotti, Daniela Di Bella, Pietro Cortelli, Cinzia Gellera, Maria Grazia Bruzzone, Elena Rizzo, Lorenzo Nanetti, Benedetta Ricci, Alfredo Brusco, Roberto Fancellu, Stefania Magri, Alessia Mongelli

Publikováno v: SSRN Electronic Journal.

Purpose: To unravel the genetic factors underlying missing heritability in spinocerebellar ataxia type 17, caused by polyglutamine-encoding CAG/CAA repeat expansions in the TBP gene. Alleles with >49 CAG/CAA are fully penetrant. Most patients, howeve

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::5ffadfbcc6996b183974d93834df8131
https://doi.org/10.2139/ssrn.3936158

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Hypomyelinating leukodystrophies in adults: Clinical and genetic features

Autor: Claudia Ciano, Davide Pareyson, Cinzia Gellera, Ettore Salsano, Sylvie Piacentini, Daniela Di Bella, Franco Taroni, Elisa Sarto, Marco Moscatelli, Laura Farina, Chiara Benzoni, Lara Draghi, Elena Mauro, Carmelo Maccagnano, Stefania Magri, Silvia Baratta

Publikováno v: European journal of neurologyREFERENCES. 28(3)

Background and purpose: Little is known about hypomyelinating leukodystrophies (HLDs) in adults. The aim of this study was to investigate HLD occurrence, clinical features, and etiology among undefined leukoencephalopathies in adulthood. Methods: We

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::af097ec7f64bf23f785da0ed89602572
https://pubmed.ncbi.nlm.nih.gov/33400842

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Severe worsening of adult-onset Alexander disease after minor head trauma: Report of two patients and review of the literature

Autor: Chiara Benzoni, Daniela Di Bella, Ettore Salsano, Elisa Sarto, Davide Pareyson, Domenico Aquino, Marco Moscatelli, Franco Taroni

Publikováno v: Journal of clinical neuroscience : official journal of the Neurosurgical Society of Australasia. 75

Alexander disease (ALXDRD) is a rare astrocytic leukodystrophy caused by GFAP mutations. The adult-onset (AO) variant is usually characterized by gradual onset of spastic ataxia and bulbar symptoms with slowly progressive course. We report two AO-ALX

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::accc370da82d7564897cdec5b6c09098
https://pubmed.ncbi.nlm.nih.gov/32223977

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From congenital microcephaly to adult onset cerebellar ataxia: Distinct and overlapping phenotypes in patients with PNKP gene mutations

Autor: Chiara Pantaleoni, Ettore Salsano, Elisa Sarto, Daniela Di Bella, Marta Gatti, Caterina Mariotti, Stefania Magri, Lorenzo Nanetti, Franco Taroni

Publikováno v: American journal of medical genetics. Part AREFERENCES. 179(11)

Pathogenic variants in polynucleotide kinase 3'-phosphatase (PNKP) gene have been associated with two distinct clinical presentations: autosomal recessive microcephaly, seizures, and developmental delay (MCSZ; MIM 613402) and ataxia with oculomotor a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::66ae58136221021d41a9b1057b048e2a
https://pubmed.ncbi.nlm.nih.gov/31436889

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Spasmodic dysphonia as a presenting symptom of spinocerebellar ataxia type 12

Autor: Elisa Sarto, Jessica Rossi, Giada Giovannini, Carla Budriesi, Annalisa Gessani, Stefano Meletti, Sara Contardi, Jessica Mandrioli, Francesco Cavallieri, Miryam Carecchio, Daniela Di Bella

Autosomal dominant spinocerebellar ataxia (SCA) type 12 is a rare SCA characterized by a heterogeneous phenotype. Action tremor of the upper limbs is the most common presenting sign and cerebellar signs can appear subsequently. In many cases, minor s

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9849c106bc8586e5ef2871e1b418c209
http://hdl.handle.net/11577/3313725

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