J Clin Neurol.  2011 Jun;7(2):102-104. 10.3988/jcn.2011.7.2.102.

Thinning of the Corpus Callosum and Cerebellar Atrophy is Correlated with Phenotypic Severity in a Family with Spastic Paraplegia Type 11

• Rajakulendran S
• Paisan-Ruiz C
• Houlden H

• KMID: 2178975
• DOI: http://doi.org/10.3988/jcn.2011.7.2.102

Abstract

BACKGROUND
Mutations in the spatacsin gene are associated with spastic paraplegia type 11 (SPG11), which is the most-common cause of autosomal recessive hereditary spastic paraplegia. Although SPG11 has diverse phenotypes, thinning of the corpus callosum is an important feature.
CASE REPORT
Clinical, genetic, and radiological evaluations were undertaken in a large family from Gujarat in North India with hereditary spastic paraplegia, whose affected members presented with varying degrees of spasticity, ataxia, and cognitive impairment. The clinical severity and the degree of corpus callosum and cerebellar atrophy varied among the four affected individuals in the family. Genetic testing of the affected members revealed recessive mutations in the spatacsin gene, consistent with a diagnosis of SPG11.
CONCLUSIONS
We believe that the extent of corpus callosum thinning and cerebellar atrophy is correlated with disease severity in affected patients. The addition of extrapyramidal features in the most-affected members suggests that SPG11 exhibits considerable phenotypic heterogeneity.

Keyword

SPG11; spatacsin; corpus callosum; hereditary spastic paraplegia; cognitive impairment; cerebellar atrophy

MeSH Terms

Ataxia
Atrophy
Corpus Callosum
Genetic Testing
Humans
India
Muscle Spasticity
Paraplegia
Phenotype
Population Characteristics
Spastic Paraplegia, Hereditary

Figure

• 

  Fig. 1 A: Family tree showing the four affected family members. B: Sagittal T2-weighted brain MRI scans demonstrating a correlation between progressive thinning of the corpus callosum (white arrow) with cerebellar atrophy and disease severity in patient 4 (mildly affected), patient 2 (moderately affected), and patient 1 (severely affected). N: normal corpus callosum. C: Chromatogram of the spatacsin mutation identified. Arrow indicates the mutation position.

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