Juvenile-Onset GM2-Gangliosidosis in an African-American Child With Nystagmus
| Autor: | Alex R. Paciorkowski, Paola Torres, B. J. Zeng, Swati Sathe, Edwin H. Kolodny, Sally S. Rosengren |
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| Rok vydání: | 2008 |
| Předmět: |
Pathology
medicine.medical_specialty beta-Hexosaminidase alpha Chain Eye disease DNA Mutational Analysis Disease Nystagmus Gangliosidosis Compound heterozygosity Developmental Neuroscience Gangliosidoses GM2 medicine Humans Sphingolipidosis Genetics business.industry medicine.disease Black or African American Neurology Child Preschool Pediatrics Perinatology and Child Health Mutation (genetic algorithm) Mutation testing Female Neurology (clinical) medicine.symptom business |
| Zdroj: | Pediatric Neurology. 38:284-286 |
| ISSN: | 0887-8994 |
| Popis: | G(M2)-gangliosidosis is a neurodegenerative lysosomal disease with several clinical variants. We describe a 2-year-old black child with juvenile-onset disease, who presented with abnormal eye movements and cherry-red spots of the maculae. Mutation analysis of the HEXA gene revealed the patient to be a compound heterozygote (M1V/Y37N). The M1V mutation was previously described in an African-American child with acute infantile G(M2)-gangliosidosis. The Y37N mutation is novel. This combination of mutations is consistent with juvenile-onset disease, and provides further evidence for the association of the M1V mutation with individuals of black ancestry. The presence of oculomotor abnormalities is an unusual finding in this form of G(M2)-gangliosidosis, and adds to the phenotypic spectrum. |
| Databáze: | OpenAIRE |
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