4.5 Article

Copy number variations in SPAST and ATL1 are rare among Brazilians

Related references

Note: Only part of the references are listed.
Article Clinical Neurology

Genetic, structural and clinical analysis of spastic paraplegia 4

Parizad Varghaei et al.

Summary: SPG4 is the most common type of hereditary spastic paraplegia, characterized by diverse genetic features and clinical manifestations. In rare cases, biallelic inheritance, de novo mutations, pathogenic synonymous mutations and CNVs should be considered.

PARKINSONISM & RELATED DISORDERS (2022)

Article Clinical Neurology

Clinical Features and Genetic Spectrum of Patients With Clinically Suspected Hereditary Progressive Spastic Paraplegia

Yuzhi Shi et al.

Summary: This study investigated the clinical features and genetic spectrum of patients with clinically suspected hereditary spastic paraplegia (HSP). It found that causative genetic mutations were identified in 51.9% of patients, with SPG4 and SPG11 being the most common gene mutations. Gait disturbance was the most common initial symptom, and there were overlapping clinical manifestations and neuroimaging findings between HSP and spinocerebellar ataxia (SCA).

FRONTIERS IN NEUROLOGY (2022)

Article Biochemistry & Molecular Biology

The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis

Antonio Victor Campos Coelho et al.

Summary: The Brazilian Rare Genomes Project aims to implement genomic medicine into the Brazilian public healthcare system. This study reports the validation results of a whole genome sequencing procedure for clinical laboratories and presents the data quality of the first 1,200 real-world patients sequenced. The performance of the sequencing protocol is in accordance with the global standards.

FRONTIERS IN MOLECULAR BIOSCIENCES (2022)

Article Clinical Neurology

TMEM63C mutations cause mitochondrial morphology defects and underlie hereditary spastic paraplegia

Luis Carlos Tabara et al.

Summary: Hereditary spastic paraplegia (HSP), a genetically diverse neurodegenerative disease, can be classified as pure or complex forms. Biallelic variants in the TMEM63C gene were identified in individuals with HSP and mild intellectual disability. Further analysis showed that TMEM63C plays a role in regulating both endoplasmic reticulum and mitochondrial morphologies.

BRAIN (2022)

Review Clinical Neurology

Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

Samuel Shribman et al.

LANCET NEUROLOGY (2019)

Article Clinical Neurology

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia

Viorica Chelban et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2017)

Article Clinical Neurology

Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach

Daniela Burguez et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2017)

Article Clinical Neurology

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

Rebecca Schuele et al.

ANNALS OF NEUROLOGY (2016)

Article Genetics & Heredity

SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia

Anna Uhrova Meszarosova et al.

JOURNAL OF HUMAN GENETICS (2016)

Article Clinical Neurology

Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia

Hyunwoong Park et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2015)

Article Clinical Neurology

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations

S. T. de Bot et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2010)

Article Biochemistry & Molecular Biology

A multi-exonic SPG4 duplication underlies sex-dependent penetrance of hereditary spastic paraplegia in a large Brazilian pedigree

Miguel Mitne-Neto et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2007)

Article Genetics & Heredity

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

Christel Depienne et al.

JOURNAL OF MEDICAL GENETICS (2007)