Research By Disease – CheckOrphan

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 KIF5A 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 SPAST 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 HSPD1 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 ATL1 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 REEP2 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 ATL1 mutation in a Chinese family with hereditary spastic paraplegia: A case report and review of literature
Novel mutation of SPG4 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 SPAST 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 18F-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 AP4E1 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
Δ1 -Pyrroline-5-carboxylate synthetase deficiency: An emergent multifaceted urea cycle-related disorder