Quantification of symptoms of movement disorders - towards support of clinical monitoring and diagnosis
Insights into Clinical, Genetic, and Pathological Aspects of Hereditary Spastic Paraplegias: A Comprehensive Overview
- Medicine, BiologyFrontiers in Molecular Biosciences
This review summarizes the known types of HSP with special focus on those in which spasticity is the principal clinical phenotype (“SPGn” designation) and discusses their modes of inheritance, clinical phenotypes, underlying genetics, and molecular pathways.
Investigating the molecular mechanisms of Hereditary Spastic Paraplegia neuropathies
This work states that a high-density, comprehensive HSP interactome can be used to inform future hypothesis-driven research, looking at the physiological mechanisms and functional relevance of these interactions, providing a greater understanding of the pathogenic mechanisms of HSP, as well as for the development of new strategies for therapeutic intervention.
Modeling axonal defects in hereditary spastic paraplegia with human pluripotent stem cells
- BiologyFrontiers in Biology
These patient-derived neurons offer a unique tool to study the pathogenic mechanisms and explore the treatments for rescuing axonal defects in HSP, as well as other diseases involving axonopathy.
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients
- MedicineAnnals of neurology
B baseline data from a continuous, prospective cohort was analyzed to investigate the phenotypic spectrum, prognostic factors, and genotype‐specific differences in HSPs.
Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance
- MedicineJournal of the Neurological Sciences
Cerebellar ataxia in the eastern and southern parts of Norway
- Medicine, PsychologyActa neurologica Scandinavica. Supplementum
The aim of this study was to find the occurrence of autosomal dominant and recessive cerebellar ataxias in the population of the southern and eastern parts of Norway and estimate its prevalence.
Retinitis pigmentosa, pigmentary retinopathies, and neurologic diseases
- MedicineCurrent neurology and neuroscience reports
The classic fundus appearance of RP includes retinal pigment epithelial cell changes resulting in retinal hypo- or hyperpigmentation, retinal granularity, and bone spicule formation, and there is a waxy pallor appearance of the optic nerve head.
The clinical spectrum of Friedreich's ataxia in German families showing linkage to the FRDA locus on chromosome 9
- Medicine, BiologyThe clinical investigator
Demonstration of linkage to the Friedreich's ataxia locus (FRDA) on chromosome 9p allowed confirmation of the genetic homogeneity of the disease in the patients under study.
Aspectos neuropsicológicos de las ataxias espinocerebelosas autosómico dominantes
Las ataxias espinocerebelosas autosomico dominantes (SCA) siempre han sido dificiles de clasificar debido a la heterogeneidad fenotipica inter e intra familiar que existe. En un principio, las…
SHOWING 1-10 OF 54 REFERENCES
The Spino‐Cerebellar Degenerations
- Medicine, PsychologyNeurology
This extensive work, the first of its kind in this country, covers every phase of neurology in a well-organized framework and may well be regarded as a landmark in American neurologic progress.
AN ATTEMPT TO CLASSIFY CEREBELLAR DISEASE, WITH A NOTE ON MARIE'S HEREDITARY CEREBELLAR ATAXIA
DYSSYNERGIA CEREBELLARIS MYOCLONICA—PRIMARY ATROPHY OF THE DENTATE SYSTEM: A CONTRIBUTION TO THE PATHOLOGY AND SYMPTOMATOLOGY OF THE CEREBELLUM
HEREDITARY ATAXIA: Clinical Study Through Six Generations
A comprehensive picture of the disease could not be expected to emerge from the study of small family groups, but would be more likely to take form if data from a large family of several generations were available.
Familial Lipoprotein Deficiency
There are three genetically determined disorders in which one or more of the lipoprotein families are absent from plasma or their concentrations are extremely low: abetalipoproteinemia,…