Thinning of the Corpus Callosum and Cerebellar Atrophy is Correlated with Phenotypic Severity in a Family with Spastic Paraplegia Type 11
Journal of Clinical Neurology
;
: 102-104, 2011.
Article
in English
| WPRIM
| ID: wpr-211518
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Paraplegia
/
Phenotype
/
Ataxia
/
Atrophy
/
Population Characteristics
/
Spastic Paraplegia, Hereditary
/
Genetic Testing
/
Corpus Callosum
/
India
/
Muscle Spasticity
Type of study:
Prognostic study
Limits:
Humans
Country/Region as subject:
Asia
Language:
English
Journal:
Journal of Clinical Neurology
Year:
2011
Type:
Article
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