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NCL Disease

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CLN4 / DNAJC5

CLN4 is an autosomal dominant adult onset NCL disease, also known as Parry disease.

Autosomal dominant adult onset NCL disease, or Parry disease is caused by mutations in DNAJC5 or CLN4. Three mutations have been described. 

For this gene, a table of families is included, in addition to patient and mutation tables. This is because some families have been reported in more than one paper; in addition, a 'new' family in one report was subsequently found to be related to one that had already been reported. For this reason, the patient table is currently under review.