Description of SPG3A HSP

Posted - November 2010 in Research Highlights

Early onset but normally uncomplicated

Disease characteristics: Spastic paraplegia 3A (SPG3A) is a hereditary spastic paraplegia (HSP) characterized by progressive bilateral and mostly symmetrical spasticity and weakness of the legs, diminished vibration sense caused by degeneration of the corticospinal tracts and dorsal columns, and urinary bladder hyperactivity.

The average age of onset is four years. More than 80% of reported individuals manifest spastic gait before the end of  the first decade of life. Most persons with early-onset SPG3A have a “pure” (“uncomplicated”) HSP.

However, complicated HSP with axonal motor neuropathy and/or distal amyotrophy with lower motor neuron involvement (Silver syndrome phenotype) has been observed.

Despite the early onset of SPG3A, the rate of  progression is slow, and wheelchair dependency or need for a walking aid (cane, walker, or wheelchair) is relatively rare.

SOURCE: GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2010 Sep 21. In: Pagon RABird TCDolan CRStephens K, editors.  PMID: 20862796 [PubMed]

Spastic Paraplegia 3A [SPG3A]

Peter Hedera, MD, PhD  [email protected]

Department of Neurology

Vanderbilt University

Nashville, TN

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