Magnetic resonance imaging findings and novel mutations in GM1 gangliosidosis.

Abstract

Two unrelated children and their siblings of Arab origin were diagnosed as having GM1 gangliosidosis on the basis of clinical features and markedly low levels of beta-galactosidase. The T2-weighted magnetic resonance images of the brain revealed certain characteristic features, including delayed myelination and abnormal appearance of the subcortical white matter, internal capsule, and basal ganglia. Their mutation analysis showed two novel mutations, which have not been described in an Arabic population.

• Authors: Aithala Gururaj, László Sztriha, Josef Hertecant, Johan G Johansen, Theodoros Georgiou, Yvan Campos, Anthi Drousiotou, Alessandra d'Azzo
• Journal: Journal of child neurology (J Child Neurol) Vol. 20 Issue 1 Pg. 57-60 (Jan 2005) ISSN: 0883-0738 [Print] United States
• PMID: 15791924 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• beta-Galactosidase

Topics

• Arabs
• Basal Ganglia
• Brain (pathology)
• Child, Preschool
• Consanguinity
• DNA Mutational Analysis
• Demyelinating Diseases (etiology, genetics)
• Female
• Gangliosidosis, GM1 (genetics, pathology)
• Humans
• Infant
• Infant, Newborn
• Magnetic Resonance Imaging
• Male
• Pedigree
• Siblings
• beta-Galactosidase