Preferred Label : Tremor, hereditary essential, and idiopathic normal pressure hydrocephalus;
Symbol : ETINPH;
CISMeF acronym : ETINPH;
Type : Other, mainly phenotypes with suspected mendelian basis;
Description : Zhang et al. (2008) reported a 5-generation kindred in which early-onset essential
tremor segregated with late-onset idiopathic normal pressure hydrocephalus (iNPH).
Inheritance was autosomal dominant. Fifteen individuals had essential tremor with
onset between 16 and 44 years of age. Three individuals with essential tremor over
the age of 65 developed NPH. The proband, a 76-year-old man, had evidence of congenital
hydrocephalus with late decompensation. Diagnosis of NPH was indicated by rapidly
progressive gait impairment, enlarged ventricles, increased head circumference, and
favorable response to shunting. Linkage analysis excluded known loci for essential
tremor (see 190300). Zhang et al. (2008) hypothesized that the essential tremor in
this family results from abnormal function of a specific neuronal gene, which also
causes the development of NPH later in life. *FIELD* RF 1. Zhang, J.; Williams, M.
A.; Rigamonti, D.: Heritable essential tremor-idiopathic normal pressure hydrocephalus.
Am. J. Med. Genet. 146A: 433-439, 2008. *FIELD* CS Autosomal dominant;
Inheritance : Autosomal dominant;
Prefixed ID : 611808;
Origin ID : 611808;
UMLS CUI : C2678494;
Currated CISMeF NLP mapping
- HPO term(s)
- Semantic type(s)
- UMLS correspondences (same concept)
