Research By Disease – CheckOrphan

Disease: Neuropathy sensory spastic paraplegia

A amyotrophic lateral sclerosis (ALS) 4 family misdiagnosed as hereditary spastic paraplegia-a case report
A de novo dominant mutation in KIF1A associated with axonal neuropathy, spasticity and autism spectrum disorder
A disease causing ATLASTIN 3 mutation affects multiple endoplasmic reticulum-related pathways
A hereditary spastic paraplegia-associated atlastin variant exhibits defective allosteric coupling in the catalytic core
A neuropathy-associated kinesin KIF1A mutation hyper-stabilizes the motor-neck interaction during the ATPase cycle
A nonstop variant in REEP1 causes peripheral neuropathy by unmasking a 3'UTR-encoded, aggregation-inducing motif
A Novel CCT5 Missense Variant Associated with Early Onset Motor Neuropathy
A Novel de novo KIF1A Mutation in a Patient with Autism, Hyperactivity, Epilepsy, Sensory Disturbance, and Spastic Paraplegia
A novel mutation in motor domain of KIF5A associated with an HSP/axonal neuropathy phenotype
A novel mutation in VCP causes Charcot-Marie-Tooth Type 2 disease
A Rare KIF1A Missense Mutation Enhances Synaptic Function and Increases Seizure Activity
A tecpr2 knockout mouse exhibits age-dependent neuroaxonal dystrophy associated with autophagosome accumulation
AAV-Mediated Gene Therapy for Glycosphingolipid Biosynthesis Deficiencies
Acute Transverse Myelitis (ATM):Clinical Review of 43 Patients With COVID-19-Associated ATM and 3 Post-Vaccination ATM Serious Adverse Events With the ChAdOx1 nCoV-19 Vaccine (AZD1222)
Adult Krabbe Disease That Was Successfully Treated with Intravenous Immunoglobulin
Adult-onset autosomal dominant spastic paraplegia linked to a GTPase-effector domain mutation of dynamin 2
ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease
Application of whole exome sequencing in undiagnosed inherited polyneuropathies
ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia
Association of variants in the KIF1A gene with amyotrophic lateral sclerosis
Autosomal dominant hereditary spastic paraplegia with axonal sensory motor polyneuropathy maps to chromosome 21q 22.3
BICD2 mutational analysis in hereditary spastic paraplegia and hereditary motor and sensory neuropathy
Childhood-Onset Hereditary Spastic Paraplegia (HSP): A Case Series and Review of Literature
Classifications of neurogenetic diseases: An increasingly complex problem
Clinical and allelic heterogeneity in a pediatric cohort of 11 patients carrying MFN2 mutation
Clinical features of inherited neuropathy with BSCL2 mutations in Japan
Clinical, neuroimaging, and molecular spectrum of TECPR2-associated hereditary sensory and autonomic neuropathy with intellectual disability
Complicated spastic paraplegia in patients with AP5Z1 mutations (SPG48)
Corticospinal tract damage in HHH syndrome: a metabolic cause of hereditary spastic paraplegia
CYP2U1 mutations in two Iranian patients with activity induced dystonia, motor regression and spastic paraplegia
De Novo ATP1A1 Variants in an Early-Onset Complex Neurodevelopmental Syndrome
Distal hereditary motor neuropathies
Dominant transmission of de novo KIF1A motor domain variant underlying pure spastic paraplegia
Early-onset axonal Charcot-Marie-Tooth disease due to SACS mutation
Efficacy of the immediate adipose-derived stromal vascular fraction autograft on functional sensorimotor recovery after spinal cord contusion in rats
Electrodiagnostic Evaluation of Critical Illness Neuropathy
Electrodiagnostic Evaluation of Critical Illness Neuropathy
Exome Sequencing: Mutilating Sensory Neuropathy with Spastic Paraplegia due to a Mutation in FAM134B Gene
Expanding the genotype-phenotype correlation of childhood sensory polyneuropathy of genetic origin
Expanding the Knowledge of KIF1A-Dependent Disorders to a Group of Polish Patients
Genetic and phenotypic characterization of complex hereditary spastic paraplegia
Genetic distribution in Chinese patients with hereditary peripheral neuropathy
Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients
Glycosphingolipids are modulators of disease pathogenesis in amyotrophic lateral sclerosis
Hereditary Neuropathies
Hereditary neuropathies: An update
Hereditary spastic paraplegia and prominent sensorial involvement: think MAG mutations!
Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms
Heterozygous KIF1A variants underlie a wide spectrum of neurodevelopmental and neurodegenerative disorders
Identification of IFRD1 variant in a Han Chinese family with autosomal dominant hereditary spastic paraplegia associated with peripheral neuropathy and ataxia
Identification of two novel KIF5A mutations in hereditary spastic paraplegia associated with mild peripheral neuropathy
Impairment of brain and muscle energy metabolism detected by magnetic resonance spectroscopy in hereditary spastic paraparesis type 28 patients with DDHD1 mutations
KIF1A mutation in a patient with progressive neurodegeneration
KIF1A variants are a frequent cause of autosomal dominant hereditary spastic paraplegia
KIF1A-Associated Neurological Disorder: An Overview of a Rare Mutational Disease
KIF1A-related disorders in children: A wide spectrum of central and peripheral nervous system involvement
Mammalian knock out cells reveal prominent roles for atlastin GTPases in ER network morphology
Mast Syndrome Outside the Amish Community: SPG21 in Europe
Mitochondrial dynamics and inherited peripheral nerve diseases
Molecular analysis and clinical diversity of distal hereditary motor neuropathy
Molecular Diagnosis of Hereditary Neuropathies by Whole Exome Sequencing and Expanding the Phenotype Spectrum
Motor impairment in a rare form of spastic paraplegia (Spoan syndrome): a 10-year follow-up
Multigeneration family with dominant SPG30 hereditary spastic paraplegia
Mutation analysis of genes within the dynactin complex in a cohort of hereditary peripheral neuropathies
Mutations in the m-AAA proteases AFG3L2 and SPG7 are causing isolated dominant optic atrophy
Nerve conduction studies in spastic paraplegia, optic atrophy, and neuropathy (SPOAN) syndrome
Neuroblastoma with symptomatic epidural compression in the infant: the AIEOP experience
Neurological manifestations of mycetoma: a cross-sectional community-based study
Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders
New spastic paraplegia phenotype associated to mutation of NFU1
Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy
Novel CTNNB1 variant leading to neurodevelopmental disorder with spastic diplegia and visual defects plus peripheral neuropathy: A case report
Novel homozygous GBA2 mutation in a patient with complicated spastic paraplegia
Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy
Overexpression of KLC2 due to a homozygous deletion in the non-coding region causes SPOAN syndrome
Pathomechanisms of motor neuron death by mutant TFG
Peripheral neuropathy in hereditary spastic paraplegia caused by REEP1 variants
Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2
Phenotypic correlations in a large single-center cohort of patients with BSCL2 nerve disorders: a clinical, neurophysiological and muscle magnetic resonance imaging study
Phenotypic expansion in KIF1A-related dominant disorders: A description of novel variants and review of published cases
Phenotypic variability related to dominant UCHL1 mutations: about three families with optic atrophy and ataxia
REEP1 and REEP2 proteins are preferentially expressed in neuronal and neuronal-like exocytotic tissues
RNF170 mutation causes autosomal dominant sensory ataxia with variable pyramidal involvement
Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3
Sensory-motor neuropathy in a case with SPG35: Expanding the phenotype
Serine Palmitoyltransferase (SPT)-related Neurodegenerative and Neurodevelopmental Disorders
Severe Generalized Weakness, Paraplegia following administration of Oxaliplatin in a patient with refractory T-cell non-Hodgkin lymphoma: A case report
Sphingolipids in neurodegenerative diseases
SPOAN syndrome: a novel mutation and new ocular findings; a case report
Sural biopsy to detect the axonal cytoskeleton defects in KIF5A-related Charcot-Marie-Tooth disease type 2
TECPR2 mutations cause a new subtype of familial dysautonomia like hereditary sensory autonomic neuropathy with intellectual disability
TFG-Related Neurologic Disorders: New Insights Into Relationships Between Endoplasmic Reticulum and Neurodegeneration
The Drosophila KIF1A Homolog unc-104 Is Important for Site-Specific Synapse Maturation
The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case
The novel de novo mutation of KIF1A gene as the cause for Spastic paraplegia 30 in a Japanese case
Thyrotoxic Neuropathy: A rare cause of acute flaccid paraplegia
Tropical myelopathies
Tropical spastic paraparesis
Variants in KIF1A gene in dominant and sporadic forms of hereditary spastic paraparesis
VRK1 variants at the cross road of Cajal body neuropathogenic mechanisms in distal neuropathies and motor neuron diseases