A5013998369- Mitochondrial Function and Pathology
- Hereditary Neurological Disorders
- RNA regulation and disease
- Cellular transport and secretion
- Muscle Physiology and Disorders
- Genetic Neurodegenerative Diseases
- Nuclear Structure and Function
- Neurological disorders and treatments
- Neurogenetic and Muscular Disorders Research
- Genomics and Rare Diseases
- Genetics and Neurodevelopmental Disorders
- Liver Diseases and Immunity
- Liver Disease Diagnosis and Treatment
- Breastfeeding Practices and Influences
- Connective tissue disorders research
- Biochemical and Molecular Research
- Fetal and Pediatric Neurological Disorders
- Glycogen Storage Diseases and Myoclonus
- Neurological diseases and metabolism
- Myasthenia Gravis and Thymoma
- Pediatric Hepatobiliary Diseases and Treatments
- Ubiquitin and proteasome pathways
- RNA and protein synthesis mechanisms
- Nerve Injury and Rehabilitation
- Thyroid and Parathyroid Surgery
Bambino Gesù Children's Hospital
2018-2024
Istituti di Ricovero e Cura a Carattere Scientifico
2021-2024
Roma Tre University
2021-2024
Institute for Neurodegenerative Disorders
2020
Abstract SNURPORTIN-1, encoded by SNUPN , plays a central role in the nuclear import of spliceosomal small ribonucleoproteins. However, its physiological function remains unexplored. In this study, we investigate 18 children from 15 unrelated families who present with atypical muscular dystrophy and neurological defects. Nine hypomorphic biallelic variants, predominantly clustered last coding exon, are ascertained to segregate disease. We demonstrate that mutant SPN1 failed oligomerize...
Background Dominant and recessive variants in the KIF1A gene on chromosome 2q37.3 are associated with several phenotypes, although only three syndromes currently listed OMIM classification: hereditary sensory autonomic neuropathy type 2 spastic paraplegia 30, both recessively inherited, mental retardation 9 dominant inheritance. Methods In this retrospective multicentre study, we describe clinical, neuroradiological genetic features of 19 Caucasian patients (aged 3–65 years) harbouring...
In recent years, genetic techniques of diagnosis have shown rapid development, resulting in a modified clinical approach to many diseases, including neurological disorders. Movement disorders, particular those arising childhood, pose diagnostic challenge. First, from purely phenomenological point view, the correct classification signs and symptoms may be difficult require expert evaluation. This is because picture often mixture hyperkinetic hypokinetic within movement combined phenotypes are...
Abstract Background X-linked myotubular myopathy (XLMTM) is a rare congenital resulting from pathogenic variants in the MTM1 gene. Affected male subjects typically present with severe hypotonia and respiratory distress at birth they often require intensive supportive care. Long-term survivors are non-ambulant, ventilator feeding tube–dependent generally show additional organ manifestations, indicating that myotubularin does play vital role tissues other than muscle. For XLMTM several...
KCND3 encodes the voltage-gated potassium channel KV4.3 that is highly expressed in cerebellum, where it regulates dendritic excitability and calcium influx. Loss-of-function mutations have been associated with dominant spinocerebellar ataxia (SCA19/22). By targeted NGS sequencing, we identified two novel missense variants of channel: p.S347W a patient adult-onset pure cerebellar syndrome p.W359G detected child congenital nonprogressive ataxia. Neuroimaging showed mild atrophy both patients....
Background Pontocerebellar hypoplasias (PCH) comprise a group of genetically heterogeneous disorders characterised by concurrent hypoplasia the pons and cerebellum variable clinical imaging features. The current classification includes 13 subtypes, with ~20 known causative genes. Attempts have been made to delineate phenotypic spectrum associated specific PCH genes, yet neuroradiological features are not consistent across studies, making it difficult define gene-specific outcomes. Methods We...
Dominant mutations in ATP1A1, encoding the alpha-1 isoform of Na+ /K+ -ATPase, have been recently reported to cause an axonal intermediate type Charcot-Marie-Tooth disease (ie, CMT2DD) and a syndrome with hypomagnesemia, intractable seizures severe intellectual disability. Here, we describe first case hereditary spastic paraplegia (HSP) caused by novel de novo (p.L337P) variant ATP1A1. We provide evidence for causative role this functional homology modeling studies. This finding expands...
X-linked myotubular myopathy (XLMTM) is a severe form of centronuclear myopathy, characterized by generalized weakness and respiratory insufficiency, associated with pathogenic variants in the MTM1 gene. NGS targeted sequencing on DNA three-month-old child affected XLMTM identified novel hemizygous c.1261-5T>G intronic variant, which interferes normal splicing process, generating two different abnormal transcripts simultaneously expressed patient’s muscular cells. The first aberrant...
Abstract BACKGROUND: X-linked myotubular myopathy (XLMTM) is a rare congenital resulting from pathogenic variants in the MTM1 gene. Affected male subjects typically present with severe hypotonia and respiratory distress at birth they often require intensive supportive care. Long-term survivors are non-ambulant, ventilator feeding tube–dependent generally show additional organ manifestations, indicating that myotubularin does play vital role tissues other than muscle. For XLMTM several...