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2091 search results for:

Spastic Paraplegia 

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  1. 30-12-2023 | Spastic Paraplegia | OriginalPaper

    Novel ERLIN2 variant expands the phenotype of Spastic Paraplegia 18

    In Brazil, studies conducted since the 1950s have revealed a high occurrence of consanguineous marriages. Particularly in the Northeast region, the frequency has been reported to be approximately 15 times higher than in the Southern region of the …

  2. 04-04-2024 | Spastic Paraplegia | Online First

    Adult-onset spastic paraplegia associated with a novel SPTBN2 missense heterozygous variant

    Hereditary spastic paraplegia (HSP) encompasses a heterogeneous group of neurodegenerative disorders affecting corticospinal tracts, leading to a progressive lower limbs pyramidal syndrome [ 1 ]. The introduction of next-generation (NGS) sequencing …

  3. Open Access 12-04-2024 | Amyotrophic Lateral Sclerosis | Online First

    Expanding SPG18 clinical spectrum: autosomal dominant mutation causes complicated hereditary spastic paraplegia in a large family

    Hereditary spastic paraplegias (HSPs) are a group of clinically and genetically heterogeneous neurodegenerative diseases characterized by progressive spasticity and lower limb weakness.

  4. 08-04-2024 | Amyotrophic Lateral Sclerosis | Online First

    The motor band sign differentiates hereditary spastic paraplegia from the others upper motor neuron syndromes

  5. 29-01-2024 | Spastic Paraplegia | BriefCommunication

    A novel homozygous HPDL variant in Japanese siblings with autosomal recessive hereditary spastic paraplegia: case report and literature review

    Biallelic variants of 4-hydroxyphenylpyruvate dioxygenase-like (HPDL) gene have been linked to neurodegenerative disorders ranging from severe neonatal encephalopathy to early-onset spastic paraplegia. We identified a novel homozygous variant …

  6. 19-03-2024 | Spastic Paraplegia | Online First

    Whole exome sequencing in Serbian patients with hereditary spastic paraplegia

    Hereditary spastic paraplegia (HSP) is a group of neurodegenerative diseases with a high genetic and clinical heterogeneity. Numerous HSP patients remain genetically undiagnosed despite screening for known genetic causes of HSP. Therefore …

  7. Open Access 01-06-2024 | Spastic Paraplegia | OriginalPaper

    Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients

    Biallelic loss of SPG11 function constitutes the most frequent cause of complicated autosomal recessive hereditary spastic paraplegia (HSP) with thin corpus callosum, resulting in progressive multisystem neurodegeneration. While the impact of …

  8. 22-01-2024 | Spastic Paraplegia | BriefCommunication

    A novel ATP13A2 variant causing complicated hereditary spastic paraplegia

    ATP13A2 , also known as PARK9 , encodes a protein that belongs to the P -type ATPase family [ 1 ]. ATP13A2 is primarily localized within the membranes of acidic organelles, including lysosomes and late endosomes [ 2 ]. Biallelic mutations in …

  9. Open Access 03-10-2023 | Rhizotomy | OriginalPaper

    Surgical treatment options for spasticity in children and adolescents with hereditary spastic paraplegia

    Hereditary spastic paraplegia (HSP) encompasses a group of inherited neurodegenerative disorders characterized by progressive spasticity and weakness [ 1 ]. Clinically, HSP has a heterogeneous presentation and is often divided in “pure” and …

  10. Open Access 16-11-2023 | Spastic Paraplegia | ReviewPaper

    Non-pharmacological treatment of hereditary spastic paraplegia: a systematic review

    Hereditary spastic paraplegias (HSPs) are monogenic neurological disorders characterized by slowly progressive lower extremity spasticity, bladder dysfunction, and mild proprioceptive sensory disturbances due to degeneration of long corticospinal …

  11. Open Access 01-12-2024 | Spastic Paraplegia | OriginalPaper

    Development and validation of TreatHSP-QoL: a patient-reported outcome measure for health-related quality of life in hereditary spastic paraplegia

    Hereditary spastic paraplegia (HSP) is a rare neurodegenerative disease, mainly characterized by lower limb weakness and spasticity, due to axonal degeneration of the corticospinal tract [ 1 ]. Prevalence varies widely, between 1.0 and 4.9 per …

  12. 11-10-2023 | Spastic Paraplegia | Letter

    Anterior pallidal hyperintensity mimicking the eye of the tiger sign in spastic paraplegia type 7

  13. 24-01-2023 | Spastic Paraplegia | OriginalPaper

    Static Balance in Hereditary Spastic Paraplegias: a Cross-sectional Study

    Motor and somatosensory pathway dysfunction due to degeneration of long tracts in hereditary spastic paraplegias (HSP) indicates that postural abnormalities may be a relevant disease feature. However, balance assessments have been underutilized to …

  14. Open Access 01-12-2023 | Spastic Paraplegia | OriginalPaper

    HTLV-1-associated myelopathy/tropical spastic paraplegia with sporadic late-onset nemaline myopathy: a case report

    Nemaline myopathy is a disorder characterized by the presence of nemaline rods in muscle fibers and is a slowly progressive genetic muscle disease typically diagnosed in childhood. In contrast, sporadic late onset nemaline myopathy (SLONM) has no …

  15. Open Access 01-12-2023 | Spastic Paraplegia | OriginalPaper

    Chenodeoxycholic acid rescues axonal degeneration in induced pluripotent stem cell-derived neurons from spastic paraplegia type 5 and cerebrotendinous xanthomatosis patients

    Cholesterol and its bile acid derivatives play critical roles in maintaining the proper structure and function of the central nervous system (CNS) [ 1 , 2 ]. Dysregulated cholesterol and bile acid homeostasis contributes to various neurological …

  16. 17-11-2022 | Spastic Paraplegia | OriginalPaper

    Hereditary spastic paraplegia in Mali: epidemiological and clinical features

    Hereditary spastic paraplegia (HSP) is a neurodegenerative disorder with extensive clinical and genetic heterogeneity [ 1 , 2 ]. It is caused by degeneration of the corticospinal tracts and sometimes the posterior columns of the spinal cord [ 3 ].

  17. Open Access 01-12-2023 | Spastic Paraplegia | OriginalPaper

    Automated assessment of foot elevation in adults with hereditary spastic paraplegia using inertial measurements and machine learning

    Hereditary spastic paraplegias (HSPs) are a group of rare inherited diseases with a prevalence of less than 10/100,000 [ 1 ]. Common for all subtypes of HSP, a slowly progressing paresis and spasticity of the legs leads to a characteristic gait …

  18. Open Access 01-12-2022 | Spastic Paraplegia | OriginalPaper

    Genetic origin of patients having spastic paraplegia with or without other neurologic manifestations

    Hereditary spastic paraplegia (HSP) is a syndromic designation for a clinically and genetically heterogeneous group of inherited neurodegenerative disorders in which the main neurological signs are lower-limb spasticity and weakness [ 1 ]. To date …

  19. 19-07-2023 | Spastic Paraplegia | OriginalPaper

    Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review

    Spastic paraplegia type 76 (SPG76) is a subtype of hereditary spastic paraplegia (HSP) caused by calpain-1 (CAPN1) mutations. Our study described the phenotypic and genetic characteristics of three families with spastic ataxia due to various CAPN1 …

  20. Open Access 30-08-2023 | Spastic Paraplegia | ReviewPaper

    Parkinsonism in complex neurogenetic disorders: lessons from hereditary dementias, adult-onset ataxias and spastic paraplegias

    Parkinsonism is a syndrome characterized by bradykinesia in combination with either rest tremor, rigidity, or both. These features are the cardinal manifestations of Parkinson’s disease, the most common cause of parkinsonism, and atypical …

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