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Pelizaeus Merzbacher Disease

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Compound heterozygous mutations in SNAP29 is associated with Pelizaeus-Merzbacher-like disorder (PMLD).

Lorida Llaci, Keri Ramsey, Newell Belnap, Ana M Claasen, Chris D Balak, Szabolcs Szelinger, Wayne M Jepsen, Ashley L Siniard, Ryan Richholt, Tyler Izat, Marcus Naymik, Matt De Both, Ignazio S Piras, David W Craig, Matthew J Huentelman, Vinodh Narayanan, Isabelle Schrauwen, Sampathkumar Rangasamy,

Pelizaeus-Merzbacher-like disease (PMLD) is an autosomal recessive hypomyelinating leukodystrophy, which is clinically and radiologically similar to X-linked Pelizaeus-Merzbacher disease (PMD). PMLD is characterized by early-onset nystagmus, delayed development (motor delay, speech delay and dysarthria), dystonia, hypotonia typically evolving into spasticity, ataxia, seizures, optic atrophy, and diffuse leukodystrophy on magnetic resonance ... Read more >>

Hum. Genet. (Human genetics)
[2019, 138(11-12):1409-1417]

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A male infant with Xq22.2q22.3 duplication containing PLP1 and MID2.

Swati R Chanchani, Hongyan Xie, Gurbax Sekhon, Ana M Melikishvili, Sue Moyer Harasink, Harpreet Pall, Philip F Giampietro,

BACKGROUND:The Xq22.2 q23 is a complex genomic region which includes the genes MID2 and PLP1 associated with FG syndrome 5 and Pelizaeus-Merzbacher disease, respectively. There is limited information regarding the clinical outcomes observed in patients with deletions within this region. METHODS:We report on a male infant with intrauterine growth retardation ... Read more >>

Mol Genet Genomic Med (Molecular Genetics & Genomic Medicine)
[2020, 8(3):e1078]

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Current Status and Use of Resources of Lysosomal Storage Diseases: Analysis of a Spanish Claims Database.

Josep Darbà, Alicia Marsà,

BACKGROUND:The knowledge of the pathophysiology of Lysosomal Storage Disorders has gradually increased, but information on their incidence is still scarce. The objective of this study was to evaluate the status and use of resources of these disorders in Spain from 1997 to 2015. METHODS:Records from 4,999 patients diagnosed with a ... Read more >>

Endocr Metab Immune Disord Drug Targets (Endocrine, metabolic & immune disorders drug targets)
[2020, 20(2):263-270]

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PLP1 Disorders

Nicole I Wolf, Rosalina ML van Spaendonk, Grace M Hobson, John Kamholz,

CLINICAL CHARACTERISTICS:PLP1 disorders of central nervous system myelin formation include a range of phenotypes from Pelizaeus-Merzbacher disease (PMD) to spastic paraplegia 2 (SPG2). PMD typically manifests in infancy or early childhood with nystagmus, hypotonia, and cognitive impairment; the findings progress to severe spasticity and ataxia. Life span is shortened. SPG2 ... Read more >>

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An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.

Mahmoud Reza Ashrafi, Man Amanat, Masoud Garshasbi, Reyhaneh Kameli, Yalda Nilipour, Morteza Heidari, Zahra Rezaei, Ali Reza Tavasoli,

Introduction: Leukodystrophies constitute heterogenous group of rare heritable disorders primarily affecting the white matter of central nervous system. These conditions are often under-appreciated among physicians. The first clinical manifestations of leukodystrophies are often nonspecific and can occur in different ages from neonatal to late adulthood periods. The diagnosis is, therefore, ... Read more >>

Expert Rev Neurother (Expert review of neurotherapeutics)
[2020, 20(1):65-84]

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Magnetic resonance imaging traits may help to differentiate Pelizaeus-Merzbacher and Pelizaeus-Merzbacher-like disease.

Matheus Augusto Araújo Castro, Pedro Henrique Almeida Fraiman, Clecio de Oliveira Godeiro-Junior,

Arq Neuropsiquiatr (Arquivos de neuro-psiquiatria)
[2019, 77(8):594]

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Oligodendrocyte Death in Pelizaeus-Merzbacher Disease Is Rescued by Iron Chelation.

Hiroko Nobuta, Nan Yang, Yi Han Ng, Samuele G Marro, Khalida Sabeur, Manideep Chavali, John H Stockley, David W Killilea, Patrick B Walter, Chao Zhao, Philip Huie, Steven A Goldman, Arnold R Kriegstein, Robin J M Franklin, David H Rowitch, Marius Wernig,

Pelizaeus-Merzbacher disease (PMD) is an X-linked leukodystrophy caused by mutations in Proteolipid Protein 1 (PLP1), encoding a major myelin protein, resulting in profound developmental delay and early lethality. Previous work showed involvement of unfolded protein response (UPR) and endoplasmic reticulum (ER) stress pathways, but poor PLP1 genotype-phenotype associations suggest additional ... Read more >>

Cell Stem Cell (Cell stem cell)
[2019, 25(4):531-541.e6]

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Clinical and genetic aspects of hereditary spastic paraplegia in patients from Turkey.

Nihan H Akçakaya, Burçak Özeş Ak, Michael A Gonzalez, Stefan Züchner, Esra Battaloğlu, Yeşim Parman,

OBJECTIVES:Hereditary spastic paraplegias (HSPs) are a heterogenous group of rare neurodegenerative disorders that present with lower limb spasticity. It is known as complicated HSP if spasticity is accompanied by additional features such as cognitive impairment, cerebellar syndrome, thin corpus callosum, or neuropathy. Most HSP families show autosomal dominant (AD) inheritance. ... Read more >>

Neurol. Neurochir. Pol. (Neurologia i neurochirurgia polska)
[2020, :]

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Unfolded protein response in myelin disorders.

Wensheng Lin, Sarrabeth Stone,

Activation of the unfolded protein response in response to endoplasmic reticulum stress preserves cell viability and function under stressful conditions. Nevertheless, persistent, unresolvable activation of the unfolded protein response can trigger apoptosis to eliminate stressed cells. Recent studies show that the unfolded protein response plays an important role in the ... Read more >>

Neural Regen Res (Neural regeneration research)
[2020, 15(4):636-645]

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Novel mutations in the GJC2 gene associated with Pelizaeus-Merzbacher-like disease.

Marta Owczarek-Lipska, Lejla Mulahasanovic, Carolin D Obermaier, Konstanze Hörtnagel, Bernd A Neubauer, Georg-Christoph Korenke, Saskia Biskup, John Neidhardt,

Inherited white matter disorders of the central nervous system frequently are degenerative and progressive clinical entities. They are classified into myelin disorders, including hypomyelination, dysmyelination, demyelination, and myelin vacuolization, but also astrocytopathies, leuko-axonopathies, microgliopathies, and leuko-vasculopathies. Hypomyelinating leukodystrophy is the main feature of Pelizaeus-Merzbacher disease (PMD) and Pelizaeus-Merzbacher-like disease (PMLD1). ... Read more >>

Mol. Biol. Rep. (Molecular biology reports)
[2019, 46(4):4507-4516]

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Correction to: Ketogenic diet ameliorates axonal defects and promotes myelination in Pelizaeus-Merzbacher disease.

Sina K Stumpf, Stefan A Berghoff, Andrea Trevisiol, Lena Spieth, Tim Düking, Lennart V Schneider, Lennart Schlaphoff, Steffi Dreha-Kulaczewski, Annette Bley, Dinah Burfeind, Kathrin Kusch, Miso Mitkovski, Torben Ruhwedel, Philipp Guder, Heiko Röhse, Jonas Denecke, Jutta Gärtner, Wiebke Möbius, Klaus-Armin Nave, Gesine Saher,

The original article was published. ... Read more >>

Acta Neuropathol. (Acta neuropathologica)
[2019, 138(4):673-674]

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Long-Term Safety, Immunologic Response, and Imaging Outcomes following Neural Stem Cell Transplantation for Pelizaeus-Merzbacher Disease.

Nalin Gupta, Roland G Henry, Sang-Mo Kang, Jonathan Strober, Daniel A Lim, Tamara Ryan, Rachel Perry, Jody Farrell, Mary Ulman, Raja Rajalingam, Allyson Gage, Stephen L Huhn, A James Barkovich, David H Rowitch,

Four boys with Pelizaeus-Merzbacher disease, an X-linked leukodystrophy, underwent transplantation with human allogeneic central nervous system stem cells (HuCNS-SC). Subsequently, all subjects were followed for an additional 4 years in this separate follow-up study to evaluate safety, neurologic function, magnetic resonance imaging (MRI) data, and immunologic response. The neurosurgical procedure, ... Read more >>

Stem Cell Reports (Stem Cell Reports)
[2019, 13(2):254-261]

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Elucidation of the pathogenic mechanism and potential treatment strategy for a female patient with spastic paraplegia derived from a single-nucleotide deletion in PLP1.

Keiko Yamamoto-Shimojima, Taichi Imaizumi, Yusuke Aoki, Ken Inoue, Tadashi Kaname, Yusuke Okuno, Hideki Muramatsu, Kohji Kato, Toshiyuki Yamamoto,

Pelizaeus-Merzbacher disease (PMD) is an X-linked recessive disorder caused by abnormalities in the gene PLP1. Most females harboring heterozygous PLP1 abnormalities are basically asymptomatic. However, as a result of abnormal patterns of X-chromosome inactivation, it is possible for some female carriers to be symptomatic. Whole-exome sequencing of a female patient ... Read more >>

J. Hum. Genet. (Journal of human genetics)
[2019, 64(7):665-671]

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Opening New Horizons in the Treatment of Childhood Onset Leukodystrophies.

Stina Schiller, Marco Henneke, Jutta Gärtner,

Leukodystrophies (LDs) predominantly affect the white matter of the central nervous system and its main component, the myelin. The majority of LDs manifests in infancy with progressive neurodegeneration. Main clinical signs are intellectual and motor function losses of already attained developmental skills. Classical LDs include lysosomal storage disorders like metachromatic ... Read more >>

Neuropediatrics (Neuropediatrics)
[2019, 50(4):211-218]

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Pelizaeus-Merzbacher Disease due to PLP1 Frameshift Mutation in a Female with Nonrandom Skewed X-Chromosome Inactivation.

Marcello Scala, Monica Traverso, Valeria Capra, Maria Stella Vari, Mariasavina Severino, Serena Grossi, Federico Zara, Pasquale Striano, Carlo Minetti,

Neuropediatrics (Neuropediatrics)
[2019, 50(4):268-270]

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Pelizaeus-Merzbacher Disease: Molecular and Cellular Pathologies and Associated Phenotypes.

Ken Inoue,

Pelizaeus-Merzbacher disease (PMD) represents a group of disorders known as hypomyelinating leukodystrophies, which are characterized by abnormal development and maintenance of myelin in the central nervous system. PMD is caused by different types of mutations in the proteolipid protein 1 (PLP1) gene, which encodes a major myelin membrane lipoprotein. These ... Read more >>

Adv. Exp. Med. Biol. (Advances in experimental medicine and biology)
[2019, 1190:201-216]

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A novel PLP1 deletion causing classic Pelizaeus-Merzbacher disease.

Carmen Prior, Maria Muñoz-Calero, Clara Gómez-Gonzalez, Paloma Martinez-Montero, Luis Barrio, Pilar Poo, Loreto Martorell, Jesus Molano,

J. Neurol. Sci. (Journal of the neurological sciences)
[2019, 397:135-137]

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Heterozygous Variants in the Mechanosensitive Ion Channel TMEM63A Result in Transient Hypomyelination during Infancy.

Huifang Yan, Guy Helman, Swetha E Murthy, Haoran Ji, Joanna Crawford, Thomas Kubisiak, Stephen J Bent, Jiangxi Xiao, Ryan J Taft, Adam Coombs, Ye Wu, Ana Pop, Dongxiao Li, Linda S de Vries, Yuwu Jiang, Gajja S Salomons, Marjo S van der Knaap, Ardem Patapoutian, Cas Simons, Margit Burmeister, Jingmin Wang, Nicole I Wolf,

Mechanically activated (MA) ion channels convert physical forces into electrical signals. Despite the importance of this function, the involvement of mechanosensitive ion channels in human disease is poorly understood. Here we report heterozygous missense mutations in the gene encoding the MA ion channel TMEM63A that result in an infantile disorder ... Read more >>

Am. J. Hum. Genet. (American journal of human genetics)
[2019, 105(5):996-1004]

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Hypomyelinating leukodystrophy-associated mutation of RARS leads it to the lysosome, inhibiting oligodendroglial morphological differentiation.

Naoto Matsumoto, Natsumi Watanabe, Noriko Iibe, Yuriko Tatsumi, Kohei Hattori, Yu Takeuchi, Hiroaki Oizumi, Katsuya Ohbuchi, Tomohiro Torii, Yuki Miyamoto, Junji Yamauchi,

Pelizaeus-Merzbacher disease (PMD) is a central nervous system (CNS) demyelinating disease in human, currently known as prototypic hypomyelinating leukodystrophy 1 (HLD1). The gene responsible for HLD1 encodes proteolipid protein 1 (PLP1), which is the major myelin protein produced by oligodendrocytes. HLD9 is an autosomal recessive disorder responsible for the gene ... Read more >>

Biochem Biophys Rep (Biochemistry and biophysics reports)
[2019, 20:100705]

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Therapeutic suppression of proteolipid protein rescues Pelizaeus-Merzbacher Disease in mice

Matthew Elitt, Lilianne Barbar, Elizabeth Shick, Berit Powers, Yuka Maeno-Hikichi, Mayur Madhavan, Kevin Allan, Baraa Nawash, Zachary Nevin, Hannah Olsen, Midori Hitomi, David LePage, Weihong Jiang, Ronald Conlon, Frank Rigo, Paul Tesar,

Mutations in proteolipid protein 1 ( PLP1 ) result in failure of myelination and severe neurological dysfunction in the X-linked pediatric leukodystrophy Pelizaeus-Merzbacher disease (PMD). The majority of PLP1 variants, including supernumerary copies and various point mutations, lead to early mortality. However, PLP1 -null patients and mice display comparatively mild ... Read more >>

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Rare Case of Female with Pelizaeus Mertzbacher Disease due to deletion of Proteolipid Protein 1: A Case Report.

Masanosuke Kinoshita, William Roston,

Pelizaeus Merzbacher Disease is a rare X-linked central nervous system disease involving the proteolipid protein 1 gene. Patients exhibit signs for instance nystagmus, hypotonia, ataxia. We report a three-year-old female patient with chief compliant of developmental delay. On physical examination, patient was alert but had poor eye contact while sitting ... Read more >>

JNMA J Nepal Med Assoc (JNMA; journal of the Nepal Medical Association)
[2018, 56(214):967-969]

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Advantages of ddPCR in detection of PLP1 duplications.

Taichi Imaizumi, Keiko Yamamoto-Shimojima, Toshiyuki Yamamoto,

Pelizaeus-Merzbacher disease (PMD) is an X-linked, recessively inherited disorder associated with hypomyelination in the brain white matter. Mutations involving the proteolipid protein 1 gene (PLP1) located on Xq22.2 are responsible for PMD. PLP1 duplication is the major genetic abnormality in PMD patients. In this study, we utilized droplet-digital polymerase chain ... Read more >>

Intractable Rare Dis Res (Intractable & rare diseases research)
[2019, 8(3):198-202]

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Anesthetic Management of a Pediatric Patient With Pelizaeus-Merzbacher Syndrome: A Case Report.

Roshan Patel, Madelyn Kahana,

A 3-year-old pediatric patient with previously diagnosed Pelizaeus-Merzbacher syndrome presented for outpatient dental restoration. Given the infrequency of this demyelinating disorder, an anesthetic plan was tailored to address the patient's hypotonia and aspiration risk, as well as minimize potential complications including seizures, hemodynamic instability, and postoperative respiratory support. Multimodal analgesia, ... Read more >>

A A Pract (A&A practice)
[2018, 11(12):351-352]

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Drug screening for Pelizaeus-Merzbacher disease by quantifying the total levels and membrane localization of PLP1.

Takeshi Kouga, Shiro Koizume, Shiho Aoki, Eriko Jimbo, Takanori Yamagata, Ken Inoue, Hitoshi Osaka,

Background:Pelizaeus-Merzbacher disease (PMD) is caused by point mutations or copy number changes in the proteolipid protein 1 gene (PLP1). PLP1 is exclusively localized in the myelin sheath of oligodendrocytes. Amino acid-substituted PLP1 protein is unable to fold properly and is subsequently degraded and/or restrictedly translated, resulting in a decrease in ... Read more >>

Mol Genet Metab Rep (Molecular genetics and metabolism reports)
[2019, 20:100474]

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Pelizaeus-Merzbacher-Like Disease 1

Norah Nahhas, Alex Conant, Jennifer Orthmann-Murphy, Adeline Vanderver, Grace Hobson,

CLINICAL CHARACTERISTICS:Pelizaeus-Merzbacher-like disease 1 (PMLD1) is a slowly progressive leukodystrophy that typically presents during the neonatal or early-infantile period with nystagmus, commonly associated with hypotonia, delayed acquisition of motor milestones, speech delay, and dysarthria. Over time the hypotonia typically evolves into spasticity that affects the ability to walk and communicate. ... Read more >>

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