PMID: 9447611Feb 3, 1998Paper

Epidemiology of hereditary neuropathy with liability to pressure palsies (HNPP) in south western Finland

Neuromuscular Disorders : NMD
P MeretojaM L Savontaus

Abstract

An epidemiological study of hereditary neuropathy with liability to pressure palsies (HNPP) was carried out in south western Finland, with a population of 435,000. The diagnosis was established in 69 patients from 23 unrelated families through family and medical history, clinical neurological and neurophysiological examinations and with documentation of the deletion at gene locus 17p11.2 in at least one member of each family. This gave a prevalence of at least 16/100,000, which is remarkably high. However, due to the insidious nature of HNPP, most probably it is still an underestimation. This is the first population-based prevalence figure reported for HNPP. The prevalence is somewhat lower than that obtained for CMT in the same population, which agrees with the proposal that HNPP and CMT 1A are reciprocal products of the same unequal crossing-over. The clinical pictures of our patients were, in general, similar to those previously described in HNPP.

References

Jun 1, 1992·Neuropediatrics·A A Gabreëls-FestenW O Renier
Nov 1, 1965·Neurology·A StaalL N Went
Sep 1, 1980·Journal of the Neurological Sciences·J DebruyneJ J Martin
Oct 1, 1994·Journal of Neurology, Neurosurgery, and Psychiatry·K SilanderM L Savontaus
Aug 7, 1954·Lancet·D M DAVIES

❮ Previous
Next ❯

Citations

Feb 25, 2009·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Archit BhattGurmail Dhaliwal
Aug 30, 2008·HSS Journal : the Musculoskeletal Journal of Hospital for Special Surgery·Marc J GrossmanScott W Wolfe
Mar 1, 2002·Journal of Clinical Neuromuscular Disease·Neeraj KumarGareth J Parry
Dec 10, 1999·Annals of the New York Academy of Sciences·P F Chance
Mar 25, 2011·BMC Musculoskeletal Disorders·Tuula NylundJyrki P Mäkelä
Mar 22, 2014·Orphanet Journal of Rare Diseases·Barbara W van PaassenMarianne de Visser
Oct 22, 2010·Journal of Orthopaedics and Traumatology : Official Journal of the Italian Society of Orthopaedics and Traumatology·S PiazzaM Mancuso
Feb 6, 2007·International Journal of Obstetric Anesthesia·J J Greenwood, W E Scott
Feb 11, 2005·Journal of the Peripheral Nervous System : JPNS·John M Lynch, Michael Hennessy
Nov 22, 2011·Muscle & Nerve·Davyd R HooperSteven K Baker
Jul 21, 2015·Neuromuscular Disorders : NMD·Nicolas ChrestianJiri Vajsar
Jul 15, 2016·Biomarkers in Medicine·Marieke JoostenMalgorzata I Srebniak
Oct 19, 2016·Current Medical Research and Opinion·H OhnesorgeJ Gierthmühlen
Mar 18, 2016·Arquivos de neuro-psiquiatria·Aline Pinheiro Martins de OliveiraWilson Marques Junior
Dec 23, 2008·Arquivos de neuro-psiquiatria·Paulo J LorenzoniLineu C Werneck
Oct 27, 2004·Annales Françaises D'anesthèsie Et De Rèanimation·S BerdaiUNKNOWN Equipe SOS-ALR
Jun 28, 2017·Rinshō shinkeigaku = Clinical neurology·Takumi NakamuraMikio Shoji
Jun 13, 2003·Journal of Occupational and Environmental Medicine·Paul A Schulte, Geoffrey Lomax
Jun 5, 2018·Diabetic Medicine : a Journal of the British Diabetic Association·G MalteseS Thomas
May 2, 2012·Journal of the Royal Army Medical Corps·H DelacourP Burnat
Dec 21, 2018·Journal of the Peripheral Nervous System : JPNS·Manuel LousaAntonio Tugores
Apr 8, 2006·Journal of Clinical Rheumatology : Practical Reports on Rheumatic & Musculoskeletal Diseases·Filiz KocYakup Sarica
Jan 28, 2005·Anesthesia and Analgesia·Gary Peters, Nigel P Hinds
Oct 2, 2020·Continuum : Lifelong Learning in Neurology·Christopher J Klein
Oct 1, 1999·Annals of the New York Academy of Sciences·Philip F Chance
Apr 17, 2019·Journal of Neurology·Shahram AttarianDavide Pareyson
Nov 20, 2016·Journal of Clinical Neuromuscular Disease·Yohei HaradaDavid N Herrmann
Oct 1, 1999·Annals of the New York Academy of Sciences·Neeraj KumarGareth J Parry
Aug 22, 2001·The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques·T J Benstead, I A Grant
Jun 4, 2020·Journal of Neurology, Neurosurgery, and Psychiatry·Clemens GstoettnerOskar C Aszmann
Apr 25, 2018·Journal of Human Genetics·Madelyn A GillentineChristian P Schaaf
May 14, 2009·Amyotrophic Lateral Sclerosis : Official Publication of the World Federation of Neurology Research Group on Motor Neuron Diseases·Elena CanaliJessica Mandrioli
Nov 16, 2002·Neurologic Clinics·Kleopas A Kleopa, Steven S Scherer
Dec 31, 2010·Revue neurologique·P Petiot, E Bernard

❮ Previous
Next ❯

Related Concepts

Trending Feeds

COVID-19

Coronaviruses encompass a large family of viruses that cause the common cold as well as more serious diseases, such as the ongoing outbreak of coronavirus disease 2019 (COVID-19; formally known as 2019-nCoV). Coronaviruses can spread from animals to humans; symptoms include fever, cough, shortness of breath, and breathing difficulties; in more severe cases, infection can lead to death. This feed covers recent research on COVID-19.

Blastomycosis

Blastomycosis fungal infections spread through inhaling Blastomyces dermatitidis spores. Discover the latest research on blastomycosis fungal infections here.

Nuclear Pore Complex in ALS/FTD

Alterations in nucleocytoplasmic transport, controlled by the nuclear pore complex, may be involved in the pathomechanism underlying multiple neurodegenerative diseases including Amyotrophic Lateral Sclerosis and Frontotemporal Dementia. Here is the latest research on the nuclear pore complex in ALS and FTD.

Applications of Molecular Barcoding

The concept of molecular barcoding is that each original DNA or RNA molecule is attached to a unique sequence barcode. Sequence reads having different barcodes represent different original molecules, while sequence reads having the same barcode are results of PCR duplication from one original molecule. Discover the latest research on molecular barcoding here.

Chronic Fatigue Syndrome

Chronic fatigue syndrome is a disease characterized by unexplained disabling fatigue; the pathology of which is incompletely understood. Discover the latest research on chronic fatigue syndrome here.

Evolution of Pluripotency

Pluripotency refers to the ability of a cell to develop into three primary germ cell layers of the embryo. This feed focuses on the mechanisms that underlie the evolution of pluripotency. Here is the latest research.

Position Effect Variegation

Position Effect Variagation occurs when a gene is inactivated due to its positioning near heterochromatic regions within a chromosome. Discover the latest research on Position Effect Variagation here.

STING Receptor Agonists

Stimulator of IFN genes (STING) are a group of transmembrane proteins that are involved in the induction of type I interferon that is important in the innate immune response. The stimulation of STING has been an active area of research in the treatment of cancer and infectious diseases. Here is the latest research on STING receptor agonists.

Microbicide

Microbicides are products that can be applied to vaginal or rectal mucosal surfaces with the goal of preventing, or at least significantly reducing, the transmission of sexually transmitted infections. Here is the latest research on microbicides.