Spastic Paraplegia 15

Background and History: 

Spastic paraplegia is a neurological disorder with prominent symptoms of stiffness in the arms and legs.  There are numerous types, most of them hereditary, distinguished from each other by the types of symptoms present depending on what brain structures are involved.  Virtually all are progressive disorders with variable ages of onset.

Clinical Correlations: 

Type 15 spastic paraplegia is relatively rare and the complete clinical characteristics are probably not fully defined.  Onset of symptoms is usually in the second decade of life, often beginning with a tremor in the hands and some unsteadiness.  The muscles in arms and especially in the legs become stiff and speech becomes slurred.  Some mental impairment is evident early but there is no evidence that this is progressive in nature.  The small muscles in the hands and feet may appear wasted.  Epilepsy and hearing deficits have been described.  The retina line the inside of the eye often has some unusual yellowish spots but vision is minimally impaired if at all.  Little is known about the progression of this disease.

Genetics: 

This is an autosomal recessive disorder caused by mutations in a gene.  The parents, often related to each other, carry a single copy of the mutation and are clinically normal.  However, such parents can expect on average that 1 in 4 of their children will inherit this condition.

Diagnosis and Prognosis: 

The diagnosis is usually made by a neurologist in consultation with an ophthalmologist.  No treatment is known nor is there information on longevity.  Physical therapy may be helpful to prolong mobility.

Additional Information
Inheritance/Pedigree: 
Autosomal recessive