Genome-Wide Linkage Scan Maps ETINPH Gene to Chromosome 19q12–13.31

  title={Genome-Wide Linkage Scan Maps ETINPH Gene to Chromosome 19q12–13.31},
  author={Jun Zhang and Christopher W. Carr and Daniele Rigamonti and Ahmed E. Badr},
  journal={Human Heredity},
  pages={262 - 267}
Objective: Essential tremor (ET), one of the most common neurological disorders, comprises uncontrollable tremor, usually in the upper extremities. Idiopathic normal pressure hydrocephalus (iNPH) features ventricular enlargement in the absence of elevated intracranial pressure; its three cardinal symptoms are gait impairment, incontinence, and dementia. iNPH is among the most common medical problems in the older population. To date, the genetic etiologies of ET and iNPH remain largely elusive… 
6 Citations
Familial idiopathic normal pressure hydrocephalus
According to multivariate logistic regression analysis, familial iNPH-patients had up to 3-fold risk of clinical dementia compared to sporadic iN PH patients, independent from diagnosed Alzheimer's disease and APOE ε4 genotype.
Key issues in essential tremor genetics research: Where are we now and how can we move forward?
  • C. Testa
  • Medicine
    Tremor and other hyperkinetic movements
  • 2013
This article reviews the ET genetics literature, results to date, the open questions in ET genetics and the current challenges in addressing them, as investigators start moving past assumptions underlying both phenotype and genetics experimental contributions, overcoming challenges to collaboration, and engaging the ET community.
Familial normal pressure hydrocephalus (NPH) with an autosomal-dominant inheritance: A novel subgroup of NPH
This is the first report to show a large family with NPH patients in three generations, who had clinical and MRI features indistinguishable from iNPH, which seems to represent a novel subgroup of NPH, familial NPH.
Diabetes is associated with familial idiopathic normal pressure hydrocephalus: a case–control comparison with family members
Diabetes is associated with fNPH and a possible risk factor for fN PH, which motivates to further prospective and gene-environmental studies to decipher the disease modelling of iNPH/fNPH.
Alzheimer's Disease-Related Polymorphisms in Shunt-Responsive Idiopathic Normal Pressure Hydrocephalus.
The findings increase the evidence that iNPH is characterized by genetic and pathophysiological mechanisms independent from AD, and displays SNP-related diversity in white matter changes.
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It is concluded that the pedigree reported here is a new autosomal dominant genetic disorder ETINPH, and the characterization of the gene that causes this disorder will certainly enhance the understanding of motor diseases in general.
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Psychiatric morbidity appeared common in affected members of this family and may be part of the RDP phenotype, the third reported family with chromosome 19q13 rapid-onset dystonia-parkinsonism.
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The disorder is called “rapid-onset dystonia-parkinsonism” (RDP) based on the unusually rapid evolution of signs and symptoms, and it is believed RDP is unique and should be classified separately from other forms of hereditary dystonian disorder.
High concordance for essential tremor in monozygotic twins of old age
The high concordance among MZ twins of very old age in this first population-based twin study of ET suggests that a disease phenotype consisting of definite and probable ET has a high heritability and hence is a good candidate for a phenotype to be used in linkage studies.
Rapid‐onset dystonia–parkinsonism: A fourth family consistent with linkage to chromosome 19q13
The clinical features in a fourth family of rapid‐onset dystonia–parkinsonism are described, suggesting that RDP may be misdiagnosed for years and/or may mimic other dystonic/parkinsonian syndromes.
Genetics of human hydrocephalus
This review summarizes the recent findings on this issue among human and animal models, especially with reference to the molecular genetics, pathological, physiological and cellular studies, and identifies future research directions.
Essential Tremor Among Children
Concomitant movement disorders, such as dystonia, are common among patients with childhood-onset ET, which supports the concept that ET is a heterogeneous disorder.
The Washington Heights-Inwood Genetic Study of Essential Tremor: methodologic issues in essential-tremor research.
Part of the design includes a new set of clinical and electrophysiological diagnostic criteria for ET, designed to investigate the genetics of ET using a methodology that has not been applied to ET research to date.
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The presenilin data provide independent support for the amyloid cascade hypothesis of Alzheimer's pathogenesis and work on the Caenorhabditis elegans homologues of thepresenilins suggests that the presenILins may have a more general and direct role in the processing and trafficking of membrane-bound proteins and that, in part, the pathogenic mutations may disrupt this role.
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