Neutral Lipid Storage Diseases: clinical/genetic features and natural history in a large cohort of Italian patients

Orphanet Journal of Rare Diseases
Elena Maria PennisiItalian NLSD Group

Abstract

A small number of patients affected by Neutral Lipid Storage Diseases (NLSDs: NLSD type M with Myopathy and NLSD type I with Ichthyosis) have been described in various ethnic groups worldwide. However, relatively little is known about the progression and phenotypic variability of the disease in large specific populations. The aim of our study was to assess the natural history, disability and genotype-phenotype correlations in Italian patients with NLSDs. Twenty-one patients who satisfied the criteria for NLSDs were enrolled in a retrospective cross-sectional study to evaluate the genetic aspects, clinical signs at onset, disability progression and comorbidities associated with this group of diseases. During the clinical follow-up (range: 2-44 years, median: 17.8 years), two patients (9.5%, both with NLSD-I) died of hepatic failure, and a further five (24%) lost their ability to walk or needed help when walking after a mean period of 30.6 years of disease. None of the patients required mechanical ventilation. No patient required a heart transplant, one patient with NLSD-M was implanted with a cardioverter defibrillator for severe arrhythmias. The genotype/phenotype correlation analysis in our population showed that the same gene...Continue Reading

References

Mar 8, 1975·British Medical Journal·I ChanarinG Stewart
Nov 14, 1997·Journal of Pediatric Gastroenterology and Nutrition·R A IgalR A Coleman
Mar 15, 2008·Biochemical and Biophysical Research Communications·Claudio BrunoCarlo Minetti
Aug 7, 2008·Skeletal Radiology·Michele GaetaSilvio Mazziotti
Oct 28, 2008·Biochemical and Biophysical Research Communications·Filomena CampagnaMarcello Arca
Nov 29, 2008·The New England Journal of Medicine·Ken-ichi HiranoGoro Matsumiya
Apr 30, 2009·American Journal of Physiology. Endocrinology and Metabolism·Martina SchweigerRudolf Zechner
May 18, 2010·Neuromuscular Disorders : NMD·Hasan O AkmanSalvatore DiMauro
May 6, 2011·Journal of Neurology·Peter ReilichHanns Lochmüller
Jun 3, 2011·The Journal of Clinical Investigation·Andrew S GreenbergDouglas G Mashek
Nov 14, 2012·Biochemical and Biophysical Research Communications·Chiara FiorilloClaudio Bruno
Jan 22, 2013·Molecular Genetics and Metabolism·Pascal LaforêtRobert-Yves Carlier
Oct 1, 2013·Neuromuscular Disorders : NMD·Laurine PerrinStéphane Chabrier
Oct 8, 2014·Muscle & Nerve·Elena M PennisiDaniela Tavian
Feb 17, 2015·European Journal of Medical Genetics·Banu Guzel NurErcan Mihci

❮ Previous
Next ❯

Citations

Feb 1, 2019·Pediatric Allergy and Immunology : Official Publication of the European Society of Pediatric Allergy and Immunology·Hagen Ott
Nov 16, 2019·Muscle & Nerve·Valentina PegoraroCorrado Angelini
Sep 6, 2019·Clinical and Experimental Dermatology·J Al-HageM Kurban
Jun 13, 2019·Orphanet Journal of Rare Diseases·Ming LiUNKNOWN Japan TGCV study group
Aug 8, 2020·Neurology·Riccardo ZuccarinoLudwig Gutmann
Oct 28, 2019·Orphanet Journal of Rare Diseases·Wei ZhangYun Yuan
Jun 12, 2019·International Journal of Hematology·Tohru InabaKen-Ichi Hirano
Dec 31, 2019·Lipids in Health and Disease·Ali Haydar EskiocakDaniela Tavian
Nov 28, 2018·Journal of Clinical Medicine·Elena Maria PennisiGiovanni Antonini
Nov 5, 2020·Molecules : a Journal of Synthetic Chemistry and Natural Product Chemistry·Florian GeltingerMark Rinnerthaler
Dec 12, 2020·Neuromuscular Disorders : NMD·Daniela Avila-SmirnowRoger Gejman-Enríquez
Dec 10, 2020·Cells·Sabina Cisa-Wieczorek, María Isabel Hernández-Alvarez
Jan 18, 2021·Liver International : Official Journal of the International Association for the Study of the Liver·Erol Cakmak, Gokhan Bagci
May 15, 2021·European Journal of Translational Myology·Daniela TavianSara Missaglia
Jun 17, 2021·Muscle & Nerve·Stefan NicolauTeerin Liewluck
Jul 3, 2021·International Journal of Molecular Sciences·Malte KellermannMichael Hensel
Jan 6, 2022·Muscle & Nerve·Grayson BeecherTeerin Liewluck

❮ Previous
Next ❯

Datasets Mentioned

BETA
NM02376
NG007090.3

Methods Mentioned

BETA
PCR
biopsies
biopsy

Software Mentioned

CaAB

Related Concepts

Related Feeds

Atrial Fibrillation

Atrial fibrillation is a common arrhythmia that is associated with substantial morbidity and mortality, particularly due to stroke and thromboembolism. Here is the latest research.

Arrhythmia

Arrhythmias are abnormalities in heart rhythms, which can be either too fast or too slow. They can result from abnormalities of the initiation of an impulse or impulse conduction or a combination of both. Here is the latest research on arrhythmias.