Leigh's disease 13 MLD 4 Wilson's disease 2 Gangliosidosis 2 PKAN (NBIA Type 1) 2 Canavan's disease 1 Alexander's disease 1 Glutaric aciduria 1
Third group of disorders involve both gray and white matter includes Mucopolysaccharidoses, Gangliosidoses, Canavan's disease, Alexander disease and Mitochondrial disorders like Leigh's disease and Glutaric aciduria.
Canavan's disease has megalencephaly and MRI shows symmetric areas of diffuse confluent white matter areas of T1 and T2 prolongation.
(spongiform degeneration) is inherited in an autosomal recessive manner but may be sporadic, due to abnormality of the aspartylacylase (ASPA) gene on chromosome 17.
Leah Cambridge was diagnosed with Canavan's Disease
- a degenerative brain condition - when she was just six months old.
She and her partner want to know about their risk of Tay-Sachs and Canavan's disease
, given that they are both of Asbkenazi Jewish heritage.
Five years ago, Reuben Matalon began to lift the veil of obscurity shrouding Canavan's disease, a fatal brain disorder that afflicts mostly Jewish children of Eastern European ancestry.
Canavan's disease, also called spongy brain degeneration, strikes one in roughly 3,500 children in the Ashkenazic Jewish community and one in 3,000 to 40,000 children in other populations, estimates Matalon.