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  • An adult Japanese Sanfilippo A patient with novel compound heterozygous S347F and D444G mutations in the sulphamidase gene

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An adult Japanese Sanfilippo A patient with novel compound heterozygous S347F and D444G mutations in the sulphamidase gene
  1. T Miyazaki1,
  2. N Masuda1,
  3. M Waragai1,
  4. Y Motoyoshi1,
  5. K Kurokawa2,
  6. T Yuasa2
  1. 1Department of Neurology, National Shimoshizu Hospital, Chiba, Japan
  2. 2Department of Neurology, Department of Neurology, Kohnodai Hospital, National Centre of Neurology and Psychiatry, Chiba, Japan
  1. Correspondence to:
 Dr N Masuda, Department of Neurology, National Shimoshizu Hospital, 934–5 Shikawatashi, Yotsukaido-shi, Chiba 284–0003, Japan;
 msd{at}simosizu.hosp.go.jp

https://doi.org/10.1136/jnnp.73.6.777

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    Sanfilippo A is a neurodegenerative disease characterised by progressive dementia, sleep disturbance, developmental delay, hyperactivity, and aggressive behaviour. Sanfilippo A is inherited as an autosomal recessive disease caused by a defect of the lysosomal enzyme sulphamidase (N–sulphoglucosamine sulphohydrolase, SGSH, EC 3.10.1.1). Failure of the degradative effect of sulphamidase is thought to cause lysosomal accumulation of heparan sulphate, leading to neuronal dysfunction. Developmental abnormality is often noticed at 2 or 3 years of age and severe neurological deterioration occurs in most patients by 6 to 10 years of age.1 The average age at death is 13 years.2 The comparatively mild somatic manifestations often cause a delay in the diagnosis.1,2 The gene encoding Sanfilippo A has been cloned.3 We now report on a Japanese Sanfilippo A patient.

    A 26 year old patient had no recognisable developmental abnormality until the age of 4 years, when he had mild language disability without motor dysfunction. Mild ventricular enlargement and brain atrophy were found at the age of 12 years. Despite his language disability, motor function was well retained even in high school. Hyperactivity and irritability appeared at the age of 17 years, and mental deterioration ensued. Simple conversation …

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