RESEARCH: Complicated, recessive HSP with Childhood Onset.

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Complicated Hereditary Spastic Paraplegia with Thin Corpus Callosum (HSP-TCC)

and Childhood Onset.

Brockmann K, Simpson MA, Faber A, Bonnemann C, Crosby AH, Gartner J.

Department of Pediatrics and Pediatric Neurology, Georg-August-University,

Gottingen, Germany. kbrock@....

The hereditary spastic paraplegias (HSPs) are a group of rare disorders with the

predominant clinical feature of progressive spastic paraplegia. They are

subdivided into pure and complicated forms according to whether the disorder is

associated with other neurological abnormalities. We report on two unrelated

female Caucasian patients with complicated HSP, aged 16 and 24 years, who showed

progressive gait disturbance with spasticity and ataxia as well as cognitive

impairment. Onset of symptoms was at age 3 and 10 years, respectively. MRI

revealed mild diffuse non-progressive T (2)-signal alterations of cerebral white

matter and thinning of the body and genu of the corpus callosum. Some similarity

of clinical symptoms and MRI patterns with the phenotype of Mast syndrome

prompted a mutation analysis of the SPG21 gene, encoding maspardin, which

revealed a wild-type sequence in both patients. Clinical and neuroradiological

features in our patients are diagnostic for complicated autosomal

recessive hereditary spastic paraplegia with thin corpus callosum (HSP-TCC,

SPG11). This disorder, characterized by a typical MRI pattern and a progressive

spastic paraplegia that may be associated with dementia and ataxia, may have an

onset in early childhood and probably is one of the more common forms of

complicated HSP.

SOURCE: Neuropediatrics. 2005 Aug;36(4):274-8.

http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve & db=PubMed & list_uids=1\

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