A Family with Hereditary Spastic Paraparesis and Epilepsy
نویسندگان
چکیده
منابع مشابه
Gait 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 کاملHereditary 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 کامل3D gait analysis in patients with hereditary spastic paraparesis and spastic diplegia: a kinematic, kinetic and EMG comparison.
The predominant clinical feature of patients with Hereditary Spastic Paraparesis (HSP) is gait disturbance owing to spasticity and weakness of the lower limbs; the spasticity in early-onset disease (infancy or childhood) often cannot be distinguished from mild form of spastic diplegia (SD). The aim of this study was to quantify the gait strategy in HSP and SD children, focusing on the differenc...
متن کاملGuillain-Barré syndrome in a patient with hereditary spastic paraparesis. A case report.
OBJECTIVE To report the unusual occurrence of Guillain-Barre syndrome (GBS) in a case of hereditary spastic paraparesis (HSP) and describe its effect on the preexisting clinical picture as well as the importance of early recognition and treatment. CLINICAL PRESENTATION AND INTERVENTION A 41-year-old man known to have HSP developed an acute and rapid deterioration of muscle power associated wi...
متن کاملExome sequencing and disease-network analysis of a single family implicate a mutation in KIF1A in hereditary spastic paraparesis.
Whole exome sequencing has become a pivotal methodology for rapid and cost-effective detection of pathogenic variations in Mendelian disorders. A major challenge of this approach is determining the causative mutation from a substantial number of bystander variations that do not play any role in the disease etiology. Current strategies to analyze variations have mainly relied on genetic and func...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Epilepsia
سال: 1997
ISSN: 0013-9580,1528-1167
DOI: 10.1111/j.1528-1157.1997.tb01741.x