4.3 Article

Clinical-Genetic Features Influencing Disability in Spastic Paraplegia Type 4 A Cross-sectional Study by the Italian DAISY Network

Related references

Note: Only part of the references are listed.
Review Clinical Neurology

Genotype-phenotype associations in hereditary spastic paraplegia: a systematic review and meta-analysis on 13,570 patients

Maryam Erfanian Omidvar et al.

Summary: This study conducted a systematic meta-analysis of genotype-phenotype associations in HSP patients, revealing specific mutated genes are associated with age of disease onset and specific sub-phenotypes. The findings could be beneficial for diagnosis and differentiation of the specific mutated genes phenotype among different forms of HSP.

JOURNAL OF NEUROLOGY (2021)

Article Clinical Neurology

Brain Damage and Gene Expression Across Hereditary Spastic Paraplegia Subtypes

Katiane R. Servelhere et al.

Summary: HSPs are characterized by brain damage, with genotype-specific patterns of abnormalities. Most HSP patients show brain and cerebellar involvement, with distinct damage patterns based on genetic subtypes.

MOVEMENT DISORDERS (2021)

Article Clinical Neurology

Determinants of age at onset in a Portuguese cohort of autosomal dominant spastic paraplegia

Rita Rodrigues et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2020)

Article Clinical Neurology

Are Cognitive Changes in Hereditary Spastic Paraplegias Restricted to Complicated Forms?

Lais Alves Jacinto-Scudeiro et al.

FRONTIERS IN NEUROLOGY (2019)

Review Clinical Neurology

Hereditary spastic paraplegia: from diagnosis to emerging therapeutic approaches

Samuel Shribman et al.

LANCET NEUROLOGY (2019)

Article Biochemistry & Molecular Biology

An allosteric network in spastin couples multiple activities required for microtubule severing

Colby R. Sandate et al.

NATURE STRUCTURAL & MOLECULAR BIOLOGY (2019)

Review Clinical Neurology

Motor Evoked Potentials in Hereditary Spastic Paraplegia-A Systematic Review

Sue-Faye Siow et al.

FRONTIERS IN NEUROLOGY (2019)

Review Clinical Neurology

Management of Hereditary Spastic Paraplegia: A Systematic Review of the Literature

Marta Bellofatto et al.

FRONTIERS IN NEUROLOGY (2019)

Article Clinical Neurology

Serum neurofilament light chain is increased in hereditary spastic paraplegias

Carlo Wilke et al.

ANNALS OF CLINICAL AND TRANSLATIONAL NEUROLOGY (2018)

Article Clinical Neurology

Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia

Viorica Chelban et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2017)

Article Clinical Neurology

Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability

Toshitaka Kawarai et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2017)

Article Genetics & Heredity

Clinical and genetic study of hereditary spastic paraplegia in Canada

Nicolas Chrestian et al.

NEUROLOGY-GENETICS (2017)

Article Clinical Neurology

Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients

Rebecca Schuele et al.

ANNALS OF NEUROLOGY (2016)

Article Clinical Neurology

Large deletion mutation of SPAST in a multi-generation family from Sardinia

L. Racis et al.

EUROPEAN JOURNAL OF NEUROLOGY (2014)

Review Neurosciences

Hereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms

Temistocle Lo Giudice et al.

EXPERIMENTAL NEUROLOGY (2014)

Article Biochemistry & Molecular Biology

Gene dosage-dependent rescue of HSP neurite defects in SPG4 patients neurons

Steven Havlicek et al.

HUMAN MOLECULAR GENETICS (2014)

Article Clinical Neurology

Overcoming artefact: anticipation in 284 Portuguese kindreds with familial amyloid polyneuropathy (FAP) ATTRV30M

Carolina Lemos et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2014)

Review Public, Environmental & Occupational Health

The Global Epidemiology of Hereditary Ataxia and Spastic Paraplegia: A Systematic Review of Prevalence Studies

Luis Ruano et al.

NEUROEPIDEMIOLOGY (2014)

Article Biochemistry & Molecular Biology

Evaluation of loss of function as an explanation for SPG4-based hereditary spastic paraplegia

Joanna M. Solowska et al.

HUMAN MOLECULAR GENETICS (2010)

Article Medicine, Research & Experimental

Hereditary spastic paraplegia proteins REEP1, spastin, and atlastin-1 coordinate microtubule interactions with the tubular ER network

Seong H. Park et al.

JOURNAL OF CLINICAL INVESTIGATION (2010)

Article Clinical Neurology

Hereditary spastic paraplegia due to SPAST mutations in 151 Dutch patients: new clinical aspects and 27 novel mutations

S. T. de Bot et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2010)

Article Clinical Neurology

Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations

C. Scuderi et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2009)

Letter Clinical Neurology

Spastic paraplegia in Romania:: high prevalence of SPG4 mutations

A. Orlacchio et al.

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY (2008)

Article Biochemistry & Molecular Biology

The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo

Jonathan D. Wood et al.

HUMAN MOLECULAR GENETICS (2006)

Article Clinical Neurology

Clinical features of hereditary spastic paraplegia due to spastin mutation

C. J. McDermott et al.

NEUROLOGY (2006)

Article Clinical Neurology

Spastin related hereditary spastic paraplegia with dysplastic corpus callosum

B Alber et al.

JOURNAL OF THE NEUROLOGICAL SCIENCES (2005)

Article Clinical Neurology

Clinical and genetic study of a large SPG4 Italian family

A Orlacchio et al.

MOVEMENT DISORDERS (2005)

Article Genetics & Heredity

Intragenic modifiers of hereditary spastic paraplegia due to spastin gene mutations

IK Svenson et al.

NEUROGENETICS (2004)

Article Clinical Neurology

Hereditary spastic paraplegia - Clinical genetic study of 15 families

A Orlacchio et al.

ARCHIVES OF NEUROLOGY (2004)

Article Biochemistry & Molecular Biology

Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

N Fonknechten et al.

HUMAN MOLECULAR GENETICS (2000)