Results 11 to 20 of about 654 (133)

Cone‐Rod Dystrophy and Progressive Visual Loss as the First Manifestation of Neuronal Ceroid Lipofuscinosis Type 7: A Case Report [PDF]

Clinical Case Reports
This case report documents the experience of a 5‐year‐old girl who showed signs of retinal degeneration as the initial symptom of neuronal ceroid lipofuscinosis (NCLs).
Seyedeh Maryam Hosseini, Reza Nejad Shahrokh Abadi, Meisam Babaei, Fatemeh Eghbal, Narges Hashemi   +4 more
doaj   +3 more sources

Molecular characterization of recessively inherited ataxic and neuropathic disorders in consanguineous Pakistani families [PDF]

Scientific Reports
Autosomal recessive ataxia is characterized primarily by gait and balance problems. Peripheral neuropathy, which affects peripheral nervous system is manifested as sensory loss, pain, numbness and/or burning sensation accompanied by distal muscle atrophy
Faiza Aslam, Muhammad Wajid, Amina Iftikhar Butt, Elizabeth Wohler, Go Hun Seo, Weizhen Ji, Saquib A. Lakhani, Nara Sobreira, Sadaf Naz   +8 more
doaj   +2 more sources

Gene disruption of Mfsd8 in mice provides the first animal model for CLN7 disease

Neurobiology of Disease, 2014
Mutations in the major facilitator superfamily domain containing 8 (MFSD8) gene coding for the lysosomal CLN7 membrane protein result in CLN7 disease, a lysosomal storage disease of childhood.
Markus Damme, Laura Brandenstein, Susanne Fehr, Wanda Jankowiak, Udo Bartsch, Michaela Schweizer, Irm Hermans-Borgmeyer, Stephan Storch   +7 more
doaj   +3 more sources

Rare Genetic Diseases with Founder Effect in Roma Children [PDF]

Life
(1) Background: The characteristics of rare diseases (RDs) vary considerably—not only between different disease types but also between individual patients with the same condition.
Simona Drobňaková, Mária Andrejková, Jana Šaligová, Ľudmila Potočňáková, Veronika Vargová, Milan Kuchta, Roman Beňačka, László Barkai   +7 more
doaj   +2 more sources

Neuronal ceroid lipofuscinoses type 7 (CLN7): a case series reporting cross sectional and retrospective clinical data to evaluate validity of standardized tools to assess disease progression, quality of life, and adaptive skills [PDF]

Orphanet Journal of Rare Diseases
Background This study evaluated the clinical characteristics of neuronal ceroid lipofuscinosis type 7 or CLN7 disease spectrum to characterize the clinical, electrophysiologic and neuroimaging phenotypes.
Saima Kayani, Veronica BordesEdgar, Andrea Lowden, Emily R. Nettesheim, Hamza Dahshi, Souad Messahel, Berge A. Minassian, Benjamin M. Greenberg   +7 more
doaj   +2 more sources

First-in-human high dose AAV9 intrathecal gene therapy for paediatric CLN7 disease: a phase 1, open-label, single ascending dose, non-randomised clinical trialResearch in context [PDF]

EBioMedicine
Summary: Background: Neuronal Ceroid Lipofuscinoses type 7 (CLN7) is a paediatric lysosomal storage disease caused by mutations of the MFSD8 gene. Affected children have normal early development, but then suffer from progressive cognitive, motor, verbal,
Benjamin M. Greenberg, Berge Minassian, Souad Messahel, Veronica Bordes Edgar, Andrea Lowden, Hamza Dahshi, Emily R. Nettesheim, Hoang H. Nguyen, Samuel Hughes, Alagar R. Muthukumar, Kalayarasan Srinivasan, Susan Iannaccone, Ganapathy Varadarajan, Steven J. Gray, Saima N. Kayani   +14 more
doaj   +2 more sources

Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants. [PDF]

Int J Mol Sci, 2022
Biallelic gene defects in MFSD8 are not only a cause of the late-infantile form of neuronal ceroid lipofuscinosis, but also of rare isolated retinal degeneration. We report clinical and genetic data of seven patients compound heterozygous or homozygous for variants in MFSD8, issued from a French cohort with inherited retinal degeneration, and two ...
Poncet AF, Grunewald O, Vaclavik V, Meunier I, Drumare I, Pelletier V, Bocquet B, Todorova MG, Le Moing AG, Devos A, Schorderet DF, Jobic F, Defoort-Dhellemmes S, Dollfus H, Smirnov VM, Dhaenens CM.   +15 more
europepmc   +5 more sources

A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability. [PDF]

Int J Mol Sci, 2022
Variants in MFSD8 can cause neuronal ceroid lipofuscinoses (NCLs) as well as nonsyndromic retinopathy. The mutation spectrum includes mainly missense and stop variants, but splice sites and frameshift variants have also been reported. To date, apparently synonymous substitutions have not been shown to cause MFSD8-associated diseases.
Reith M, Zeltner L, Schäferhoff K, Witt D, Zuleger T, Haack TB, Bornemann A, Alber M, Ruf S, Schoels L, Stingl K, Weisschuh N.   +11 more
europepmc   +4 more sources

Mutations in MFSD8/CLN7 are a frequent cause of variant-late infantile neuronal ceroid lipofuscinosis [PDF]

Human Mutation, 2009
The neuronal ceroid lipofuscinoses (NCL) are a group of genetically heterogeneous neurodegenerative disorders. The recent identification of the MFSD8/CLN7 gene in a variant-late infantile form of NCL (v-LINCL) in affected children from Turkey prompted us to examine the relative frequency of variants in this gene in Italian patients with v-LINCL.
Mirella Filocamo, Alessandro Simonati, Yanick Crow   +2 more
exaly   +5 more sources

A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report

BMC Medical Genetics, 2018
Background Neuronal ceroid lipofuscinoses (NCLs) are the most common autosomal recessive neurodegenerative disorders in children. Clinical manifestations include progressive cognitive decline, motor impairment, ataxia, visual loss, seizures and early ...
Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Krasnenko, Kirill Yurievich Tsukanov, Olesya Igorevna Klimchuk, Olga Borisovna Kondakova, Anna Nikolaevna Larionova, Tatyana Timofeevna Batysheva, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky   +11 more
doaj   +3 more sources