Results 111 to 120 of about 24,692 (277)

MicroRNA and metabolomics signatures for adrenomyeloneuropathy disease severity

JIMD Reports, 2022
Adrenomyeloneuropathy (AMN), the slow progressive phenotype of adrenoleukodystrophy (ALD), has no clinical plasma biomarker for disease progression. This feasibility study aimed to determine whether metabolomics and micro‐RNA in blood plasma provide a ...
Bela Rui Turk, Laila Marie Poisson, Christina Linnea Nemeth, Jordan Goodman, Ann B. Moser, Richard Owen Jones, Ali Fatemi, Jaspreet Singh   +7 more
doaj   +1 more source

White Matter Matters: A Magnetic Resonance Imaging Study with Clinical Correlates in Primary Brain Calcification

Movement Disorders, EarlyView.
Abstract Background Primary brain calcification (PBC) is a genetic disease featuring movement disorders, cognitive impairment, and/or psychiatric symptoms. Computed tomography (CT) scan identifies brain calcification but poorly correlates with patients' clinical phenotype; the role of magnetic resonance imaging (MRI) is yet undefined.
Giovanni Librizzi, Giulia Bonato, Matilde Corazza, Irene Guerra, Francesca Pistonesi, Cinzia Bertolin, Leonardo Salviati, Angelo Antonini, Renzo Manara, Miryam Carecchio   +9 more
wiley   +1 more source

Loss of Ramified Microglia Precedes Axonal Spheroid Formation in Adult-Onset Leukoencephalopathy with Axonal Spheroids.

Free Neuropathology, 2020
Two different pathological mechanisms have been suggested to underlie adult-onset leukoencephalopathy with axonal spheroids (ALAS). Pathological studies have suggested that ALAS involves primary axonopathy with secondary demyelination.
Murad Alturkustani, Qi Zhang, Basma AlYamany, Lee-Cyn Ang   +3 more
doaj   +1 more source

Infantile Alexander Disease: Case Report and Review of Literature [PDF]

Journal of Clinical and Diagnostic Research, 2017
Alexander Disease (AD) is an autosomal dominant leukodystrophy and occurs predominantly in infants and children. It usually results in death within ten years after onset. Among the four subtypes, infantile form comprises the most of affected individuals.
Soumyabrata Sarkar, Rupam Sinha, Amitabha Chakraborty, Tanya Khaitan, Biyas Bhowmik   +4 more
doaj   +1 more source

Inborn errors of metabolism: a clinical overview [PDF]

, 1999
CONTEXT: Inborn errors of metabolism cause hereditary metabolic diseases (HMD) and classically they result from the lack of activity of one or more specific enzymes or defects in the transportation of proteins.
Martins, Ana Maria
core   +4 more sources

From Uncertainty to Pathogenicity: Resolving a CSF1R Variant of Uncertain Significance Using Long‐Read Transcriptomics

Movement Disorders, EarlyView.
Abstract Background CSF1R‐related disorder (CSF1R‐RD) is a severe autosomal dominant leukoencephalopathy characterized by progressive cognitive, neuropsychiatric, and motor decline. Although genetic testing is widely available, numerous likely pathogenic variants in CSF1R frequently remain classified as variants of uncertain significance (VUS ...
Charles Wade, Kylie Montgomery, Gabriela E. Jones, Peter Sellars, Akram A. Hosseini, Simon Paine, Henry Houlden, Mina Ryten, David S. Lynch   +8 more
wiley   +1 more source

From a novel pathogenic SAMD9L variant to cohort‐wide insights: Whole‐genome sequencing highlights somatic genetic rescue and phenotypic heterogeneity

British Journal of Haematology, EarlyView.
Summary Germline gain‐of‐function variants in sterile alpha motif domain–containing 9‐like (SAMD9L), located on chromosome 7q, cause a multisystem disorder characterized by bone marrow failure, immunodeficiency and variable neurological involvement. Disease evolution is frequently shaped by somatic genetic rescue (SGR), most commonly through monosomy 7,
Hadjer Dellal, Roman Klifa, Lise Larcher, Marie Passet, Tristan Celse, Laetitia Gouas, Maud Tusseau, AURAGEN Consortium, Alexis Praga, Virginie Bernard, Mathieu Fusaro   +10 more
wiley   +1 more source

Proteomic profile of CSF obtained at the time of diagnosis determines amyotrophic lateral sclerosis progression and survival: CXCL7 levels in disease prognosis and survival

Brain Pathology, EarlyView.
Untargeted multiomic profiling of cerebrospinal fluid reveals that proteomic, but not lipidomic, signatures robustly distinguish ALS patients from controls and stratify individuals by survival, highlighting marked molecular differences between short survival and long survival disease.
Sergio Roca‐Pereira, Yaiza López‐Sampere, Pol Mengod‐Soler, Mario Peña‐Fonteboa, Carla Marco, Alejandro Caravaca‐Puchades, Raúl Domínguez, Juan Francisco Vázquez‐Costa, Enrique Santamaría, Joaquín Fernández‐Irigoyen, María J. Colomina, Isabel León Moreno, Antonio Martínez Yélamos, Sergio Martínez Yélamos, Gabriel Santpere, Elia Obis, Manuel Portero‐Otín, Gerard Piñol‐Ripoll, Mónica Povedano, Pol Andrés‐Benito   +19 more
wiley   +1 more source

Accumulation of lysosulfatide in the brain of arylsulfatase A-deficient mice

Lipids in Health and Disease, 2011
Lysosomal storage diseases are a group of disorders where accumulation of catabolites is manifested in the lysosomes of different cell types. In metachromatic leukodystrophy (Arylsulfatase A [EC.3.1.6.8] deficiency) storage of the glycosphingolipid ...
Månsson Jan-Eric, Gieselmann Volkmar, Blomqvist Maria   +2 more
doaj   +1 more source

A large genomic deletion leads to enhancer adoption by the lamin B1 gene: a second path to autosomal dominant adult-onset demyelinating leukodystrophy (ADLD) [PDF]

, 2017
Chromosomal rearrangements with duplication of the lamin B1 (LMNB1) gene underlie autosomal dominant adult-onset demyelinating leukodystrophy (ADLD), a rare neurological disorder in which overexpression of LMNB1 causes progressive central nervous system ...
Antonarakis, Stylianos E., Atzori, Cristiana, Brusco, Alfredo, Brussino, Alessandro, Canale, Claudio, Di Gregorio, Eleonora, Ferrera, Denise, Ferrero, Enza, Gasparini, Laura, Giorgio, Elisa, Guipponi, Michel, Imperiale, Daniele, Pennacchio, Len A., Robyr, Daniel, Santoni, Federico, Spielmann, Malte, Stamoulis, Georgios, Vaula, Giovanna   +17 more
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