Spastic paraplegia, familial

Spastic Paraplegia, Familial

Spastic paraplegia, familial, also known as hereditary spastic paraplegia (HSP), is a group of inherited disorders characterized by progressive weakness and spasticity (stiffness) of the legs. This condition is caused by degeneration of the corticospinal tracts, which are responsible for voluntary movement control.

Clinical Features

The primary symptom of familial spastic paraplegia is progressive spasticity and weakness of the lower limbs. Patients may experience difficulty walking, increased muscle tone, and exaggerated reflexes. Over time, these symptoms can lead to significant disability.

Additional Symptoms

While the hallmark of HSP is lower limb spasticity, some forms of the disorder may also present with additional neurological symptoms, such as:

• Ataxia
• Peripheral neuropathy
• Cognitive impairment
• Epilepsy

Genetic Basis

Hereditary spastic paraplegia is genetically heterogeneous, meaning it can be caused by mutations in different genes. Over 80 different genetic loci have been associated with HSP, and the mode of inheritance can be autosomal dominant, autosomal recessive, or X-linked.

Common Genes Involved

Some of the most commonly implicated genes in HSP include:

• SPG4: Mutations in the SPAST gene, which encodes the spastin protein, are the most common cause of autosomal dominant HSP.
• SPG3A: Mutations in the ATL1 gene, which encodes atlastin-1, are another common cause of autosomal dominant HSP.
• SPG11: Mutations in the SPG11 gene are associated with a form of HSP that often includes cognitive impairment and thin corpus callosum.

Diagnosis

Diagnosis of familial spastic paraplegia is based on clinical evaluation, family history, and genetic testing. Neuroimaging, such as MRI, may be used to rule out other causes of spasticity and to identify characteristic features associated with certain types of HSP.

Management

There is currently no cure for hereditary spastic paraplegia. Management focuses on alleviating symptoms and improving quality of life. This may include:

• Physical therapy to maintain mobility and muscle strength
• Medications to reduce spasticity, such as baclofen or tizanidine
• Orthopedic interventions, such as braces or surgery, to address deformities

Prognosis

The progression of HSP varies widely among individuals. Some may experience only mild symptoms, while others may become severely disabled. The rate of progression can also vary, with some individuals experiencing a slow progression over decades.

Also see

• Spasticity
• Corticospinal tract
• Neurodegenerative disorders
• Genetic testing

edit 

WikiMD neurology

External links

• Comprehensive information from the National Institute of health.
  

A | B | C | D | E | F | G | H | I | J | K | L | M | N | O | P | Q | R | S | T | U | V | W | X | Y | Z