Hereditary spastic paraplegia

The spastic paraplegia (SPG ), also called spastic paraplegia, are a group of neurodegenerative diseases ( hereditary ) occur sporadically or hereditary. The hereditary spastic paraplegia ( HSP short, even Strümpell Lorrain syndrome) are genetically heterogeneous, which means that mutations can trigger the disease in different genes. The mode of inheritance is autosomal dominant, autosomal recessive or X -linked recessive.

The spastic paraplegia are characterized by increasing spasticity in the legs. In more advanced stages may be dependent for the rest of his life on the wheelchair application of the person concerned.

The disease was first described by Adolf von Strümpell.

Classification

Epidemiology

The prevalence is 4-5/100.000 residents. 75% of cases are hereditary, the rest sporadically. Males are affected twice as often as the female.

Cause

The group of spastic paraplegia is genetically heterogeneous. There are 48 different known loci of HSP. They are referred to with spastic paraplegia gene for SPG and numbered from 1-48. The inheritance is different depending on the shape and may be autosomal dominant, autosomal recessive or X-linked. It so far affected 23 of mutations genes have been identified.

Symptoms and course

The onset of hereditary spastic paraplegia is highly variable, ranging from early childhood to the seventh decade of life. There will be an increasing spastic paralysis of the legs ( paraparesis ).

Depending on the clinical symptoms and complex forms of pure hereditary spastic paraplegia be distinguished. In the pure forms, the symptoms mainly due to the spastic paraparesis is limited. However, it is sensory disturbances with disorders of the depth, the surface and the temperature sensitivity and bladder problems ( urinary urgency, urinary frequency, and occasionally urge incontinence ) and rarely rectal disturbances. The complicated hereditary spastic paraplegia ( CHSP ) are defined by the occurrence of other neurological symptoms such as ataxia, severe muscle atrophy, optic atrophy, retinopathy, impairment of the extrapyramidal system, mental retardation, dementia, deafness, ichthyosis, neuropathy, and epilepsy. The complicated forms are very rare. Examples are the Sjögren -Larsson syndrome, which Troyer syndrome, MASA syndrome, the Charlevoix -Saguenay syndrome and Kjellin syndrome.

The degree of spasticity often exceeds that of paresis. In addition to the age of onset and the progression and the degree of disability is variable. The adductor muscles of the hip joint are typically preferentially affected. This Adduktorenspastik leads to a " scissors gait ". Sufferers have to get while walking difficulties legs pass each other. Both the upper and the lower extremities are often enhanced reflexes detectable. However, the muscles of the upper extremities rarely has spastic paralysis, and if so, then these are compared to the lower limbs only slightly pronounced. The symptoms of the disease worsen over a period of 2-3 decades, in the final stage, patients are bedridden with spastic contractures.

Investigation

When examining the reflexes are increased significantly. There may be a Spontanbabinski. The abdominal skin reflexes remain long, sensitivity and CSF findings are normal.

Histology

Demise of Betz cells in the fifth layer of the dentate gyrus and a continuous or discontinuous degeneration of the pyramidal tract.

Therapy

The disease is currently only symptomatic, but not causally treatable.

Methods of investigation

Differential Diagnosis

Multiple sclerosis, cervical myelopathy, spinal space-occupying process, amyotrophic lateral sclerosis, funicular myelosis, neuroborreliosis, Friedreich's ataxia, parasagittales meningioma