Posterior fossa abnormalities in hereditary spastic paraparesis with spastin mutations.

Abstract

BACKGROUND:

Hereditary spastic paraparesis (HPS) linked to mutations in the spastin gene (SPG4) is considered to be a pure form of spastic hereditary paraparesis. However, in this disease also other signs of central nervous system involvement are frequently found.

METHODS:

Clinical, genetical and neuroradiological investigations were carried out in a large family with autosomal dominant spastic paraparesis and in a sporadic case with spastic paraparesis.

RESULTS:

Additional clinical and molecular data are provided, studying other members of the same pedigree, as already described, with a five-base deletion in exon 9 of the SPG4 gene (1215-1219delTATAA) whose members show MRI anomalies that fall within the Dandy-Walker continuum. Furthermore, an unrelated female patient with hypoplasia of the cerebellar vermis is indicated, carrying a de novo previously reported mutation of the SPG4 gene (c.1741C>T p.R581X).

CONCLUSIONS:

Spastin may play an important role in the development of the central nervous system and in particular in the development of the structures of posterior fossa.

• Authors: C Scuderi, M Fichera, G Calabrese, M Elia, C Amato, M Savio, E Borgione, G A Vitello, S A Musumeci
• Journal: Journal of neurology, neurosurgery, and psychiatry (J Neurol Neurosurg Psychiatry) Vol. 80 Issue 4 Pg. 440-3 (Apr 2009) ISSN: 1468-330X [Electronic] England
• PMID: 19289482 (Publication Type: Journal Article)

Chemical References

• Codon
• Adenosine Triphosphatases
• Spastin
• SPAST protein, human

Topics

• Adenosine Triphosphatases (genetics)
• Adolescent
• Adult
• Aged
• Child
• Child, Preschool
• Codon (genetics)
• Cognition (physiology)
• Cranial Fossa, Posterior (abnormalities, pathology)
• Dandy-Walker Syndrome (genetics, pathology)
• Electroencephalography
• Electromyography
• Exons (genetics)
• Female
• Humans
• Infant
• Intellectual Disability (etiology, genetics)
• Magnetic Resonance Imaging
• Male
• Middle Aged
• Mutation
• Neuropsychological Tests
• Pedigree
• Spastic Paraplegia, Hereditary (genetics, pathology, psychology)
• Spastin
• Young Adult