Disease: Spastic paraplegia 8- autosomal dominant
- <em>GJA1</em> 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 <em>KIF5A</em> 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 <em>NIPA1</em>-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 <em>ATL1</em> 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 <em>FGF14</em> 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