Hereditary spastic paraplegia (HSP): radiological features

Written and reviewed by Dr Ibrahim Imam, Consultant Neurologist. Last reviewed .

Hereditary spastic paraplegia (HSP): radiological features. Agenesis of the corpus callosum, Aqueductal stenosis. Fully referenced neurology checklist.

Radiological features: A-C

  • Agenesis of the corpus callosum
  • Aqueductal stenosis
  • Arachnoid cysts
  • Basal ganglia calcification
  • Brain iron accumulation
  • Brainstem dysraphism
  • Canal stenosis (lumbar)
  • Cerebellar atrophy
  • Cerebral atrophy
  • Cervical spine hyperintensities
  • Cingulate gyrus under-development
  • Colpocephaly
  • Corpus callosum enlargement
  • Corpus callosum white matter abnormality

Radiological features: D-Z

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References

  1. Online Mendelian Inheritance in Man (OMIM)
  2. McDermott CJ, Burness CE, Kirby J, et al. Clinical features of hereditary spastic paraplegia due to spastin mutation. Neurology 2006; 67:45-51.
  3. Salinas S, Proukakis C, Crosby A, Warner TT. Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms. Lancet Neurol 2008; 7:1127-1138.
  4. Kara E, Tucci A, Manzoni C, et al. Genetic and phenotypic characterization of complex hereditary spastic paraplegia. Brain 2016; 139:1904-1918.
  5. Finsterer J, Löscher W, Quasthoff S, Wanschitz J, Auer-Grumbach M, Stevanin G. Hereditary spastic paraplegias with autosomal dominant, recessive, X-linked, or maternal trait of inheritance. J Neurol Sci 2012; 318:1-18.
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