Abstract
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 T2-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.
Key words
Hereditary spastic paraplegia - corpus callosum - ataxia - dementia - Mast syndrome
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MD Knut Brockmann
Department of Pediatrics and Pediatric Neurology
Georg-August-University
Faculty of Medicine
Robert-Koch-Straße 40
37075 Göttingen
Germany
Email: kbrock@med.uni-goettingen.de