Hereditary Spastic Paraparesis Latest Advances

Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.

Journal: Amyotrophic lateral sclerosis & frontotemporal degeneration

Published: September 17, 2025

An atypical case of FA2H-related HSP35 with subtle neuroimaging findings and a novel variant in a young adult with spastic paraparesis.

Journal: Acta neurologica Belgica

Published: July 16, 2025

FA2H gene-associated spastic paraplegia (SPG35) - familial case with late onset

Journal: Zhurnal nevrologii i psikhiatrii imeni S.S. Korsakova

Published: June 03, 2025

Selection of Children with Spasticity Other Than Cerebral Palsy: Indications, Long-Term Outcome, and Exclusion Criteria.

Journal: Advances and technical standards in neurosurgery

Published: May 30, 2025

Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20.

Journal: Gene

Published: April 08, 2025

HPDL Biallelic Variants in Cerebral Palsy and Childhood-Onset Hereditary Spastic Paraplegia: Human and Zebrafish Insights.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: March 25, 2025

Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment.

Journal: Clinical genetics

Published: February 24, 2025

Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed Ataxia.

Journal: Internal medicine (Tokyo, Japan)

Published: February 02, 2025

Genotype variability in early-onset Hereditary Spastic Paraplegia: a single-center study.

Journal: European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society

Published: January 08, 2025

A Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual Disability.

Journal: Cerebellum (London, England)

Published: December 23, 2024

High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic.

Journal: Movement disorders clinical practice

Published: December 05, 2024

High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic.

Journal: Movement disorders clinical practice

Published: December 05, 2024

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Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.

Serum NfL, but not GFAP, differentiates primary lateral sclerosis from adrenomyeloneuropathy and hereditary spastic paraplegia type 4.

An atypical case of FA2H-related HSP35 with subtle neuroimaging findings and a novel variant in a young adult with spastic paraparesis.

An atypical case of FA2H-related HSP35 with subtle neuroimaging findings and a novel variant in a young adult with spastic paraparesis.

FA2H gene-associated spastic paraplegia (SPG35) - familial case with late onset

FA2H gene-associated spastic paraplegia (SPG35) - familial case with late onset

Selection of Children with Spasticity Other Than Cerebral Palsy: Indications, Long-Term Outcome, and Exclusion Criteria.

Selection of Children with Spasticity Other Than Cerebral Palsy: Indications, Long-Term Outcome, and Exclusion Criteria.

Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20.

Maternal uniparental isodisomy in a patient with autosomal recessive spastic paraplegia type 20.

HPDL Biallelic Variants in Cerebral Palsy and Childhood-Onset Hereditary Spastic Paraplegia: Human and Zebrafish Insights.

HPDL Biallelic Variants in Cerebral Palsy and Childhood-Onset Hereditary Spastic Paraplegia: Human and Zebrafish Insights.

Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment.

Never Late: Cerebrotendinous Xanthomatosis and Improvements in Neurocognitive Functions in an Adult Patient on Chenodeoxycholic Acid Treatment.

Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed Ataxia.

Clinical and Genetic Analyses of SPG7 in Japanese Patients with Undiagnosed Ataxia.

Genotype variability in early-onset Hereditary Spastic Paraplegia: a single-center study.

Genotype variability in early-onset Hereditary Spastic Paraplegia: a single-center study.

A Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual Disability.

A Japanese Family with a Novel Pathogenic Variant in KIF1A Presenting with Spastic Paraparesis, Cerebellar Ataxia, and Intellectual Disability.

High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic.

High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic.

High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic.

High Genetic Diagnostic Yield for Patients with Rare Movement Disorders at a Single-Center Neurogenetics Clinic.