Clinical and genetic update of hereditary spastic paraparesis
نویسندگان
چکیده
منابع مشابه
Hereditary spastic paraparesis: a review of new developments.
Hereditary spastic paraparesis (HSP) or the Strümpell-Lorrain syndrome is the name given to a heterogeneous group of inherited disorders in which the main clinical feature is progressive lower limb spasticity. Before the advent of molecular genetic studies into these disorders, several classifications had been proposed, based on the mode of inheritance, the age of onset of symptoms, and the pre...
متن کاملClinical and genetic study of hereditary spastic paraplegia in Canada
OBJECTIVE To describe the clinical, genetic, and epidemiologic features of hereditary spastic paraplegia (HSP) in Canada and to determine which clinical, radiologic, and genetic factors determine functional outcomes for patients with HSP. METHODS We conducted a multicenter observational study of patients who met clinical criteria for the diagnosis of HSP in the provinces of Alberta, Ontario, ...
متن کاملGait Patterns in Patients with Hereditary Spastic Paraparesis
BACKGROUND Spastic gait is a key feature in patients with hereditary spastic paraparesis, but the gait characterization and the relationship between the gait impairment and clinical characteristics have not been investigated. OBJECTIVES To describe the gait patterns in hereditary spastic paraparesis and to identify subgroups of patients according to specific kinematic features of walking. M...
متن کاملClinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.
OBJECTIVE To describe a family with chromosome 2p-linked hereditary spastic paraparesis (HSP) associated with dementia and illustrate the cerebral pathology associated with this disorder. BACKGROUND HSP comprises a heterogeneous group of inherited disorders in which the main clinical feature is severe, progressive lower limb spasticity. Nongenetic classification relies on characteristics such...
متن کاملHereditary spastic paraplegia: Clinical-genetic characteristics and evolving molecular mechanisms
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurological disorders characterized by pathophysiologic hallmark of length-dependent distal axonal degeneration of the corticospinal tracts. The prominent features of this pathological condition are progressive spasticity and weakness of the lower limbs. To date, 72 spastic gait disease-loci and 55 spast...
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ژورنال
عنوان ژورنال: Revue Neurologique
سال: 2021
ISSN: 0035-3787
DOI: 10.1016/j.neurol.2020.07.001