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Voluntary movement is a fundamental way in which animals respond to, and interact with, their environment. In mammals, the main CNS pathway controlling voluntary movement is the corticospinal tract, which encompasses connections between the cerebral motor cortex and the spinal cord. Hereditary spastic paraplegias (HSPs) are a group of genetic disorders that lead to a length-dependent, distal axonopathy of fibres of the corticospinal tract, causing lower limb spasticity and weakness. Recent work aimed at elucidating the molecular cell biology underlying the HSPs has revealed the importance of basic cellular processes - especially membrane trafficking and organelle morphogenesis and distribution - in axonal maintenance and degeneration.
Neurogenetics Branch, National Institute of Neurological Disorders and Stroke (NINDS), National Institutes of Health, 9000 Rockville Pike, Bethesda, Maryland 20892, USA.
This article was published in the following journal.
Name: Nature reviews. Neuroscience
Hereditary spastic paraplegias (HSP) are a genetically and clinically heterogeneous group of disorders. At present, nineteen autosomal dominant loci for HSP have been mapped. We ascertained an America...
The family of genes implicated in hereditary spastic paraplegias (HSPs) is quickly expanding, mostly owing to the widespread availability of next-generation DNA sequencing methods. Nevertheless, a gen...
Hereditary spastic paraplegias are heterogeneous neurological disorders characterized by a pyramidal syndrome with symptoms predominantly affecting the lower limbs. Some limited pyramidal involvement ...
To present a Greek family in which 5 male and 2 female members developed progressive spastic paraplegia. Plasma very long chain fatty acids (VLCFA) were reportedly normal at first testing in an affect...
Objective: Although calf muscle spasticity is often treated with botulinum toxin type-A, the effects on balance and gait are ambiguous. Hereditary spastic paraplegia is characterized by progressive sp...
OBJECTIVES: I. Assess the efficacy and safety of selective dorsal rhizotomy and physiotherapy compared with physiotherapy alone in improving gross motor function and reducing spasticity ...
Cerebellar ataxias (CA) and spastic paraplegias (SP) are genetically and clinically very heterogeneous. More than 40 loci are already known but the number of phenotypes is even greater sug...
The study is about the effect of an exercise program using stationary bicycling for children with the spastic diplegic form of cerebral palsy. Spastic diplegia is a type of cerebral palsy...
This study surveys the parents/guardians about symptoms and diagnosis of asthma in kindergarten and first-grade students in 13 schools around the city of Anchorage, Alaska. Traffic informa...
The main purpose of the study is to determine the accident risk when driving under the influence of psychoactive substances, including alcohol (DUI). Other aims are to find out the prevale...
A group of slowly progressive inherited disorders affecting motor and sensory peripheral nerves. Subtypes include HMSNs I-VII. HMSN I and II both refer to CHARCOT-MARIE-TOOTH DISEASE. HMSN III refers to hypertrophic neuropathy of infancy. HMSN IV refers to REFSUM DISEASE. HMSN V refers to a condition marked by a hereditary motor and sensory neuropathy associated with spastic paraplegia (see SPASTIC PARAPLEGIA, HEREDITARY). HMSN VI refers to HMSN associated with an inherited optic atrophy (OPTIC ATROPHIES, HEREDITARY), and HMSN VII refers to HMSN associated with retinitis pigmentosa. (From Adams et al., Principles of Neurology, 6th ed, p1343)
A heterogeneous group of nonprogressive motor disorders caused by chronic brain injuries that originate in the prenatal period, perinatal period, or first few years of life. The four major subtypes are spastic, athetoid, ataxic, and mixed cerebral palsy, with spastic forms being the most common. The motor disorder may range from difficulties with fine motor control to severe spasticity (see MUSCLE SPASTICITY) in all limbs. Spastic diplegia (Little disease) is the most common subtype, and is characterized by spasticity that is more prominent in the legs than in the arms. Pathologically, this condition may be associated with LEUKOMALACIA, PERIVENTRICULAR. (From Dev Med Child Neurol 1998 Aug;40(8):520-7)
Accidents on streets, roads, and highways involving drivers, passengers, pedestrians, or vehicles. Traffic accidents refer to AUTOMOBILES (passenger cars, buses, and trucks), BICYCLING, and MOTORCYCLES but not OFF-ROAD MOTOR VEHICLES; RAILROADS nor snowmobiles.
Mild or moderate loss of motor function accompanied by spasticity in the lower extremities. This condition is a manifestation of CENTRAL NERVOUS SYSTEM DISEASES that cause injury to the motor cortex or descending motor pathways.
A group of inherited diseases that share similar phenotypes but are genetically diverse. Different genetic loci for autosomal recessive, autosomal dominant, and x-linked forms of hereditary spastic paraplegia have been identified. Clinically, patients present with slowly progressive distal limb weakness and lower extremity spasticity. Peripheral sensory neurons may be affected in the later stages of the disease. (J Neurol Neurosurg Psychiatry 1998 Jan;64(1):61-6; Curr Opin Neurol 1997 Aug;10(4):313-8)
Neurology - Central Nervous System (CNS)
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Alzheimer's Disease Anesthesia Anxiety Disorders Autism Bipolar Disorders Dementia Epilepsy Multiple Sclerosis (MS) Neurology Pain Parkinsons Sleep Disorders Neurology is the branch of medicine concer...
Spinal Cord Disorders
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The spinal cord is a bundle of nerves that runs down the middle of the back which carry signals back and forth between the body and brain. It is protected by vertebrae, which are the bone disks that make up the spine. An accident that damages the verte...