Introduction
Hereditary spastic paraplegiaFamilial spastic paraplegia(familial spastic paraplegia, FSP) is a neurodegenerative disease characterized by chronic progressive paraplegia and weakness. Clinically, it can be divided into simple HSP and complex HSP: complex HSP in addition to lower extremity spastic paralysis, as well as visual impairment or ataxia; simple HSP also known as Stumpell familial spastic paraplegia (Stumpell familial spastic paraplegia) It is limited to the lower extremity spasm.
Cause
(1) Causes of the disease
The cause of hereditary spastic paraplegia is unknown. Most of them are autosomal dominant, and can also be autosomal recessive and X-linked inheritance.
(two) pathogenesis
The pathogenesis is still unclear, and some people think it is genetic inheritance, which is related to the defects of the enzyme system. The pathological features are cortical spinal cord degeneration, and sometimes Betz cells in the anterior gyrus of the brain can also be degenerated.
1. Pathological features of simple HSP are axonal degeneration of the central nervous system. Degenerative lesions occur in the lateral and posterior cords of the spinal cord, especially the spinal cord and cortical spinal cord and thin bundle, while the spinal cerebellar and spinal thalamus The beam is less damaged.
2. Genetics Since the first HSP family of disease-causing genes was located in 1986, the following HSP gene loci have been discovered in recent years. Autosomal dominant hereditary spastic paraplegia (AD-HSP) 4 loci, 14q11.2-24, 2P21-24, 15q11.1 and 8q23-24, autosomal recessive hereditary spastic paraplegia ( AR-HSP) two loci, 8p12-13 and 16q243, and X recessive hereditary spastic paraplegia (XR-HSP), which are xq16 and xq21-22, respectively. Recently, a novel locus of autosomal recessive complex HSP has been found at 14q12-24.
symptom
HSP can be seen at any age, but more common in children or adolescence. Men are more common than women. There is often a positive family history, mainly characterized by slow onset, progressive progressive lower extremity paralytic paraplegia. Most of the first symptoms are inconvenient walking, stiff upper limbs, easy running, and difficult stairs. Physical examination can find the gait of the lower limbs scissors, the muscle tension of the lower limbs is increased, the sputum reflex is hyperthyroidism, the sputum is positive, and the pathological signs are positive. Most children may have arched feet, and some children have deep sensory disturbances.
Clinically, only those with spastic paraplegia are referred to as simple HSP, and those with combined extramedullary lesions are called complex HSP. A small number of patients began to manifest as simple type, with extra-spinal damage occurring decades later.
1. Simple HSP is more common. In 1987, Harding was further divided into simple HSPI type and type II according to the age of onset.
(1) Type I: Type I patients develop before the age of 35. Most patients with simple HSPI are male. The age of onset of AR-HSP is usually 3 to 6 years old or 10 years old.
(2) Type II: Patients with simple HSPII type develop after 35 years of age. AD-HSP has a late onset age, with an average age of 18 years. The pyramidal tract sign is obvious, and there are often sensory disturbances and sphincter disorders.
2. The age of onset of complex XR-HSP is generally 3 to 5 years old, all male. In addition to spastic paraplegia, there is extra-spinal damage. According to the different symptoms, several types (syndrome or subtype) are formed. The common complex HSP has the following type 8.
diagnosis
The basis for diagnosis is as follows:
1 The age of onset is mostly between 10 and 35 years old. Can have a family history.
2 Slowly performing lower extremity spasm and weakness.
3 may be associated with optic atrophy, retinitis pigmentosa, cerebellar ataxia, mental retardation, muscle atrophy and so on.
4 brain CT and / or MRI are mostly normal.
Identification
According to the above performance should be differentiated from cerebral palsy (sputum type), spinal cord compression, hereditary motor neuron disease, spinal cord tumor and spinal arachnoiditis.
complication
May be associated with optic atrophy, retinitis pigmentosa, cerebellar ataxia, mental retardation, muscle atrophy. Bow-shaped feet, deep sensory dysfunction and sphincter disorders can occur, and dyskinesia is prone to fall.
treatment
Western medicine treatment
There is currently no specific treatment. According to the condition, Achilles tendon extension or adductor muscle release can be performed. Although the condition is still progressing, surgical treatment can at least delay the progress of the disease for several years.
The above content is for reference only, please consult the relevant physician or relevant medical institution if necessary.
prevention
For the prevention of this disease, the focus should be on genetic counseling and prenatal diagnosis.
Prognosis
The prognosis is related to the early and late onset and typing. The early onset group (3 to 5 years old) is a simple type of HSP. The disease progresses slowly, and it is not possible to walk after about 30 years of onset. It is generally not life-threatening.
In the late-onset group (onset after 30 years of age), the disease progressed rapidly; the complex type had a poor prognosis.
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