Disease: Spastic paraplegia 4- autosomal dominant
- A case of spastic paraplegia with SPG4 and SPG3 associated mutations
- A clinical and genetic study of SPG31 in Japan
- A de novo mosaic mutation in SPAST with two novel alternative alleles and chromosomal copy number variant in a boy with spastic paraplegia and autism spectrum disorder
- A Japanese hereditary spastic paraplegia family with a rare nonsynonymous variant in the SPAST gene
- A new family with spastic paraplegia type 51 and novel mutations in AP4E1
- A novel mutation in motor domain of KIF5A associated with an HSP/axonal neuropathy phenotype
- A Novel Mutation in the Stalk Domain of <em>KIF5A</em> Causes a Slowly Progressive Atypical Motor Syndrome
- A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease
- A novel mutation of SPAST gene in a hereditary spastic paraplegia type 4 family
- A Novel SPAST Mutation Results in Spastin Accumulation and Defects in Microtubule Dynamics
- A novel truncating variant of <em>SPAST</em> associated with hereditary spastic paraplegia indicates a haploinsufficiency pathogenic mechanism
- A Novel Variant of ATP5MC3 Associated with Both Dystonia and Spastic Paraplegia
- A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature
- A recurrent de novo <em>HSPD1</em> variant is associated with hypomyelinating leukodystrophy
- Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2
- Alteration of ornithine metabolism leads to dominant and recessive hereditary spastic paraplegia
- Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia
- Amplifying the spectrum of SPAST gene mutations
- An autosomal dominant neurological disorder caused by de novo variants in FAR1 resulting in uncontrolled synthesis of ether lipids
- Analysis of Genetic Mutations in a Cohort of Hereditary Optic Neuropathy in Shanghai, China
- Ascending Spinal Cord Infarction Secondary to Recurrent Spinal Cord Cavernous Malformation Hemorrhage
- Autosomal dominant hereditary spastic paraplegia with axonal sensory motor polyneuropathy maps to chromosome 21q 22.3
- Autosomal dominant spastic paraplegias
- Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey
- BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy
- Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan
- Clinical and genetic heterogeneity in hereditary spastic paraplegias: from SPG1 to SPG72 and still counting
- Clinical and genetic spectrum of hereditary spastic paraplegia in Chinese children
- Clinical and molecular characterization of hereditary spastic paraplegias: A next-generation sequencing panel approach
- Clinical characteristics and variant analysis of five pedigrees with hereditary spastic paraplegia
- Clinical features and genotype-phenotype correlation analysis in patients with <em>ATL1</em> mutations: A literature reanalysis
- Compound heterozygous mutations in two different domains of ALDH18A1 do not affect the amino acid levels in a patient with hereditary spastic paraplegia
- Corpus callosum thinning in autosomal dominant hereditary spastic paraplegia associated with a novel TUBβ4A mutation
- Corticospinal tract and motor cortex degeneration in pure hereditary spastic paraparesis type 4 (SPG4)
- De novo <em>REEP2</em> missense mutation in pure hereditary spastic paraplegia
- Dominant KPNA3 Mutations Cause Infantile-Onset Hereditary Spastic Paraplegia
- Endovascular aneurysm repair for aorto-iliac artery pathologies in patients with autosomal dominant polycystic kidney disease
- Evidence for Non-Mendelian Inheritance in Spastic Paraplegia 7
- 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
- Expanding the clinical phenotype associated with ELOVL4 mutation: study of a large French-Canadian family with autosomal dominant spinocerebellar ataxia and erythrokeratodermia
- Expansion of the mutation and phenotypic spectrum of hereditary spastic paraplegia
- Extensive Leukoencephalopathy in Spastic Paraplegia Type 4: Possible Role of Cerebral Autosomal Arteriopathy With Subcortical Infarcts and Leukoencephelopathy
- Familial, long-term pollakisuria as initial manifestation of HSP4 due to the SPAST variant c.683-2A>C
- Functional MRI of the cortical sensorimotor system in patients with hereditary spastic paraplegia
- Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia
- Genetic and Epidemiological Study of Adult Ataxia and Spastic Paraplegia in Eastern Quebec
- 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
- History of Ataxias and Paraplegias with an Annotation on the First Description of Striatonigral Degeneration
- Human genetic disorders of sphingolipid biosynthesis
- Identification of c.1495C > T mutation in SPAST gene in a family of Han Chinese with hereditary spastic paraplegia
- Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia
- Japan Spastic Paraplegia Research Consortium (JASPAC)
- KIF1A-related autosomal dominant spastic paraplegias (SPG30) in Russian families
- Kinesins in neurological inherited diseases: a novel motor-domain mutation in KIF5A gene in a patient from Southern Italy affected by hereditary spastic paraplegia
- Large deletion mutation of SPAST in a multi-generation family from Sardinia
- Large Intragenic Deletion in DSTYK Underlies Autosomal-Recessive Complicated Spastic Paraparesis, SPG23
- Late-onset spastic paraplegia type 10 (SPG10) family presenting with bulbar symptoms and fasciculations mimicking amyotrophic lateral sclerosis
- Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients
- Motor neuropathy-associated mutation impairs Seipin functions in neurotransmission
- Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis
- Multigeneration family with dominant SPG30 hereditary spastic paraplegia
- Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation
- Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China
- Mutation in CPT1C Associated With Pure Autosomal Dominant Spastic Paraplegia
- Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia
- Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia
- MYO1H is a novel candidate gene for autosomal dominant pure hereditary spastic paraplegia
- Neurological presentations of oculodentodigital dysplasia
- Non-motor symptoms in patients with hereditary spastic paraplegia caused by SPG4 mutations
- Novel <em>ATL1</em> mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature
- Novel mutation of <em>SPG4</em> gene in a Chinese family with hereditary spastic paraplegia: A case report
- Novel SPAST deletion and reduced DPY30 expression in a Spastic Paraplegia type 4 kindred
- Overlapping neuropathological findings in an asymptomatic <em>SPAST</em> gene mutation carrier
- Paediatric-onset hereditary spastic paraplegias: a retrospective cohort study
- Partial SPAST and DPY30 deletions in a Japanese spastic paraplegia type 4 family
- PMCA4 (ATP2B4) mutation in familial spastic paraplegia causes delay in intracellular calcium extrusion
- Protrudin regulates endoplasmic reticulum morphology and function associated with the pathogenesis of hereditary spastic paraplegia
- Quantitative Gait Analysis Using a Motorized Treadmill System Sensitively Detects Motor Abnormalities in Mice Expressing ATPase Defective Spastin
- Rare disease models provide insight into inherited forms of neurodegeneration
- Reduced penetrance of an eastern French mutation in ATL1 autosomal-dominant inheritance (SPG3A): extended phenotypic spectrum coupled with brain <sup>18</sup>F-FDG PET
- Research on clinical and molecular genetics of hereditary spastic paraplegia 11 patients in China
- Role of kinesin-1 in the pathogenesis of SPG10, a rare form of hereditary spastic paraplegia
- Snake Technique in Osler's Disease-Associated Thoracoabdominal Aortic Aneurysm
- Spastic paraplegia 51: phenotypic spectrum related to novel homozygous <em>AP4E1</em> mutation
- Spastic paraplegia type 31: A novel REEP1 splice site donor variant and expansion of the phenotype variability
- Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability
- Spastin binds to lipid droplets and affects lipid metabolism
- Spinal cord involvement in adult-onset metabolic and genetic diseases
- TFG-Related Neurologic Disorders: New Insights Into Relationships Between Endoplasmic Reticulum and Neurodegeneration
- Thalamic atrophy in patients with pure hereditary spastic paraplegia type 4
- The Alu-rich genomic architecture of SPAST predisposes to diverse and functionally distinct disease-associated CNV alleles
- The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies
- The high prevalence of hereditary spastic paraplegia in Sardinia, insular Italy
- Tremor as an early sign of hereditary spastic paraplegia due to mutations in ALDH18A1
- Truncating Mutations in UBAP1 Cause Hereditary Spastic Paraplegia
- Whole-exome sequencing in neurologic practice: Reducing the diagnostic odyssey
- Δ<sup>1</sup> -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder