Research By Disease – CheckOrphan

Disease: Spastic paraplegia 8- autosomal dominant

GJA1 Variants Cause Spastic Paraplegia Associated with Cerebral Hypomyelination
A clinical and genetic study of SPG31 in Japan
A de novo SPAST mutation leading to somatic mosaicism is associated with a later age at onset in HSP
A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene
A large family with pure autosomal dominant hereditary spastic paraplegia from southern Italy mapping to chromosome 14q11.2-q24.3
A new family with spastic paraplegia type 51 and novel mutations in AP4E1
A novel form of autosomal recessive pure hereditary spastic paraplegia maps to chromosome 13q14
A novel KIAA0196 mutation in a Chinese patient with spastic paraplegia 8: A case report
A novel locus for autosomal dominant "uncomplicated" hereditary spastic paraplegia maps to chromosome 8p21.1-q13.3
A Novel Mutation in the Stalk Domain of KIF5A Causes a Slowly Progressive Atypical Motor Syndrome
A novel mutation of SPAST gene in a hereditary spastic paraplegia type 4 family
Adult-onset autosomal dominant leukodystrophy and neuronal intranuclear inclusion disease: lessons from two new Chinese families
Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
Anaesthesia and orphan disease: Management of a case of Strumpell-Lorrain disease and review of the literature
Atlastin1 mutations are frequent in young-onset autosomal dominant spastic paraplegia
Autosomal-dominant early-onset spastic paraparesis with brain calcification due to IFIH1 gain-of-function
Chinese patients with Machado-Joseph disease presenting with complicated hereditary spastic paraplegia
Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation
Clinical and genetic characterization of NIPA1 mutations in a Taiwanese cohort with hereditary spastic paraplegia
Clinical and Genetic Features of Chinese Patients With NIPA1-Related Hereditary Spastic Paraplegia Type 6
Clinical and genetic study of a large SPG4 Italian family
Clinical features and genotype-phenotype correlation analysis in patients with ATL1 mutations: A literature reanalysis
Cold temperature improves mobility and survival in Drosophila models of autosomal-dominant hereditary spastic paraplegia (AD-HSP)
Complicated forms of autosomal dominant hereditary spastic paraplegia are frequent in SPG10
Conserved aromatic and basic amino acid residues in the pore region of Caenorhabditis elegans spastin play critical roles in microtubule severing
Deep Intronic FGF14 GAA Repeat Expansion in Late-Onset Cerebellar Ataxia
Distinct novel mutations affecting the same base in the NIPA1 gene cause autosomal dominant hereditary spastic paraplegia in two Chinese families
Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia
Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes
Eight novel mutations in SPG4 in a large sample of patients with hereditary spastic paraplegia
Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7
Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment
Exome sequencing identifies novel compound heterozygous mutations in SPG11 that cause autosomal recessive hereditary spastic paraplegia
Exome sequencing implicates a novel heterozygous missense variant in DSTYK in autosomal dominant lower urinary tract dysfunction and mild hereditary spastic paraparesis
Exome sequencing reveals a novel missense mutation in the KIAA0196 gene in a Japanese patient with SPG8
Exome sequencing reveals a novel WDR45 frameshift mutation and inherited POLR3A heterozygous variants in a female with a complex phenotype and mixed brain MRI findings
Exon 8-17 deletions of SPAST in a Chinese family with hereditary spastic paraplegia: a case report and literature review
Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia
First patient with hereditary spastic paraplegia type 8 in Poland
Four mutations of the spastin gene in Japanese families with spastic paraplegia
Four novel SPG3A/atlastin mutations identified in autosomal dominant hereditary spastic paraplegia kindreds with intra-familial variability in age of onset and complex phenotype
Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
Gray and white matter alterations in hereditary spastic paraplegia type SPG4 and clinical correlations
Hereditary ataxia and spastic paraplegia in Portugal: a population-based prevalence study
Hereditary optic neuropathies in pediatric ophthalmology
Hereditary spastic paraplegia
Hereditary spastic paraplegia SPG8 mutations impair CAV1-dependent, integrin-mediated cell adhesion
Hereditary spastic paraplegia type 8: Neuropathological findings
Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family
Identification of a novel mutation in the spastin gene (SPG4) in an Italian family with hereditary spastic paresis
Identification of atlastin genetic modifiers in a model of hereditary spastic paraplegia in Drosophila
Identification of the Drosophila melanogaster homolog of the human spastin gene
Impaired lipid metabolism in astrocytes underlies degeneration of cortical projection neurons in hereditary spastic paraplegia
Japan Spastic Paraplegia Research Consortium (JASPAC)
JASPAC: Japan Spastic Paraplegia Research Consortium
KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families
Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients
More autosomal dominant SPG18 cases than recessive? The first AD-SPG18 pedigree in Chinese and literature review
Motor and somatosensory evoked potentials in Autosomal Dominant Hereditary Spastic Paraparesis (ADHSP) linked to chromosome 2p, SPG4
Motor system abnormalities in hereditary spastic paraparesis type 4 (SPG4) depend on the type of mutation in the spastin gene
Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis
Multiple sclerosis in patients with hereditary spastic paraplegia: a case report and systematic review
Mutation analysis of SPG4 and SPG3A genes and its implication in molecular diagnosis of Korean patients with hereditary spastic paraplegia
Mutation analysis of the SPG4 gene in Italian patients with pure and complicated forms of spastic paraplegia
Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia
Mutations in the motor and stalk domains of KIF5A in spastic paraplegia type 10 and in axonal Charcot-Marie-Tooth type 2
N471D WASH complex subunit strumpellin knock-in mice display mild motor and cardiac abnormalities and BPTF and KLHL11 dysregulation in brain tissue
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus
NIPA1 (SPG6) mutations are a rare cause of autosomal dominant spastic paraplegia in Europe
Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations
Novel Type of Complicated Autosomal Dominant Hereditary Spastic Paraplegia Associated with Congenital Distal Arthrogryposis Type I
P5CS expression study in a new family with ALDH18A1-associated hereditary spastic paraplegia SPG9
Paroxysmal, exercise-induced, diurnally fluctuating dystonia: Expanding the phenotype of SPG8
PMCA4 (ATP2B4) mutation in familial spastic paraplegia
REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31
Seipinopathy: a novel endoplasmic reticulum stress-associated disease
SNX14 deficiency-induced defective axonal mitochondrial transport in Purkinje cells underlies cerebellar ataxia and can be reversed by valproate
Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy
Spastic paraplegia mutation N256S in the neuronal microtubule motor KIF5A disrupts axonal transport in a Drosophila HSP model
Spastic Paraplegia Type 8: A First Report from India
Spastic paraplegia, ataxia, mental retardation (SPAR): a novel genetic disorder
Spastin gene mutation in Chinese patients with hereditary spastic paraplegia
Spectrum of SPG4 mutations in a large collection of North American families with hereditary spastic paraplegia
SPG3A is the most frequent cause of hereditary spastic paraplegia with onset before age 10 years
SPG3A protein atlastin-1 is enriched in growth cones and promotes axon elongation during neuronal development
SPG8 mutations in Italian families: clinical data and literature review
Spinal cord magnetic resonance imaging in autosomal dominant hereditary spastic paraplegia
Stop-gain mutations in UBAP1 cause pure autosomal-dominant spastic paraplegia
Subtle cognitive impairment but no dementia in patients with spastin mutations
The genetics of hereditary spastic paraplegia and implications for drug therapy
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies
The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo
The phenotype-driven computational analysis yields clinical diagnosis for patients with atypical manifestations of known intellectual disability syndromes
The R495W mutation in SPG3A causes spastic paraplegia associated with axonal neuropathy
The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8
Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
Truncating variants in UBAP1 associated with childhood-onset nonsyndromic hereditary spastic paraplegia
Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements
Whole-exome sequencing identifies homozygous AFG3L2 mutations in a spastic ataxia-neuropathy syndrome linked to mitochondrial m-AAA proteases