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. Author manuscript; available in PMC: 2011 Apr 1.
Published in final edited form as: Genet Med. 2010 Apr;12(4 Suppl):S5–S14. doi: 10.1097/GIM.0b013e3181d5a669

TABLE 1.

Summary of clinical details

Tay-Sachs disease Canavan disease
Mode of Inheritance Autosomal Recessive (Each offspring has a one in four chance of receiving the mutated gene from both parents, and thus being affected by the condition.)1 Autosomal Recessive3
Cause Hexosaminidase A deficiency, leading to buildup of Gm2 gangliosides in neuronal cells1 Aspartoacylase deficiency leading to buildup of N-acetylaspartic acid, leading to demyelination and spongy degeneration of the brain16
Symptoms Weakness, loss of motor skills, decreased attentiveness, increased startle response, death usually before age four1 Macrocephaly (large head), lack of head control, hypotonia (lack of muscle tone), seizures, spasticity, failure to achieve independent sitting, ambulation, or speech, death usually before teenage years3
Treatment Supportive Supportive
Carrier Rate (Ashkenazim)4 1:31 1:41
Natural Incidence (Based on a carrier rate of 1:30 and 1:4033) 1:3000 1:6400