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Josef Finsterer, Carla A Scorza, Fulvio A Scorza
No abstract text is available yet for this article.
January 31, 2019: Neurogenetics
Ivana Ricca, Federica Morani, Giacomo Maria Bacci, Claudia Nesti, Roberto Caputo, Alessandra Tessa, Filippo Maria Santorelli
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is an early-onset neurodevelopmental disorder characterized by the association of spastic ataxia and sensorimotor neuropathy. Additional features include retinal changes and cognitive impairment. Today, next-generation sequencing (NGS) techniques are allowing the rapid identification of a growing number of missense variants, even in less typical forms of the disease, but the pathogenic significance of these changes is often difficult to establish on the basis of classic bioinformatics criteria and genotype/phenotype correlations...
January 24, 2019: Neurogenetics
Tsutomu Yasuda, Takashi Matsukawa, Jun Mitsui, Shoji Tsuji
No abstract text is available yet for this article.
January 7, 2019: Neurogenetics
Nurun Nahar Borna, Yoshihito Kishita, Masakazu Kohda, Sze Chern Lim, Masaru Shimura, Yibo Wu, Kaoru Mogushi, Yukiko Yatsuka, Hiroko Harashima, Yuichiro Hisatomi, Takuya Fushimi, Keiko Ichimoto, Kei Murayama, Akira Ohtake, Yasushi Okazaki
Pentatricopeptide repeat domain proteins are a large family of RNA-binding proteins involved in mitochondrial RNA editing, stability, and translation. Mitochondrial translation machinery defects are an expanding group of genetic diseases in humans. We describe a patient who presented with low birth weight, mental retardation, and optic atrophy. Brain MRI showed abnormal bilateral signals at the basal ganglia and brainstem, and the patient was diagnosed as Leigh syndrome. Exome sequencing revealed two potentially loss-of-function variants [c...
January 3, 2019: Neurogenetics
Yukiko Hata, Koji Yoshida, Naoki Nishida
Progressive myoclonus epilepsy-ataxia syndrome (EPM5) is an autosomal recessive form of progressive myoclonus epilepsy that has been associated with a homozygous missense mutation in PRICKLE1. We report a 23-year-old male who died shortly after refractory convulsion and respiratory failure. Autopsy showed unilateral hippocampal malformation without significant neuronal loss or gliosis. Genetic analysis that targeted both epilepsy and cardiac disease using next-generation sequencing revealed two variants of PRICKLE1...
December 18, 2018: Neurogenetics
Ines Kapferer-Seebacher, Quinten Waisfisz, Sylvia Boesch, Marieke Bronk, Peter van Tintelen, Elke R Gizewski, Rebekka Groebner, Johannes Zschocke, Marjo S van der Knaap
Here, we report brain white matter alterations in individuals clinically and genetically diagnosed with periodontal Ehlers-Danlos syndrome, a rare disease characterized by premature loss of teeth and connective tissue abnormalities. Eight individuals of two families clinically diagnosed with periodontal Ehlers-Danlos syndrome were included in the present study and underwent general physical, dental, and neurological examination. Whole exome sequencing was performed, and all patients included in the study underwent MRI of the brain...
December 8, 2018: Neurogenetics
(no author information available yet)
No abstract text is available yet for this article.
December 2018: Neurogenetics
Peter Sparber, Andrey Marakhonov, Alexandra Filatova, Inna Sharkova, Mikhail Skoblov
Neurodegeneration with brain iron accumulation type 4 (NBIA4) also known as MPAN (mitochondria protein-associated neurodegeneration) is a rare neurological disorder which main feature is brain iron accumulation most frequently in the globus pallidus and substantia nigra. Whole exome sequencing (WES) in a 12-year-old patient revealed 2 variants in the C19orf12 gene, a previously reported common 11 bp deletion c.204_214del11, p.(Gly69Argfs*10) and a novel splicing variant c.193+5G>A. Functional analysis of novel variant showed skipping of the second exon, resulting in a formation of a truncated nonfunctional protein...
November 3, 2018: Neurogenetics
Júlia Canet-Pons, Ralf Schubert, Ruth Pia Duecker, Roland Schrewe, Sandra Wölke, Matthias Kieslich, Martina Schnölzer, Andreas Chiocchetti, Georg Auburger, Stefan Zielen, Uwe Warnken
Autosomal recessive ataxia telangiectasia (A-T) is characterized by radiosensitivity, immunodeficiency, and cerebellar neurodegeneration. A-T is caused by inactivating mutations in the ataxia telangiectasiamutated (ATM) gene, a serine-threonine protein kinase involved in DNA damage response and excitatory neurotransmission. The selective vulnerability of cerebellar Purkinje neurons (PN) to A-T is not well understood. Employing global proteomic profiling of cerebrospinal fluid from patients at ages around 15 years, we detected reduced calbindin, reelin, cerebellin-1, cerebellin-3, protocadherin fat 2, sempahorin 7A, and increased apolipoprotein B and J peptides...
October 21, 2018: Neurogenetics
Sergei Y Funikov, Alexander P Rezvykh, Pavel V Mazin, Alexey V Morozov, Andrey V Maltsev, Maria M Chicheva, Ekaterina A Vikhareva, Mikhail B Evgen'ev, Aleksey A Ustyugov
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder that leads to the eventual death of motor neurons. Described cases of familial ALS have emphasized the significance of protein misfolding and aggregation of two functionally related proteins, FUS (fused in sarcoma) and TDP-43, implicated in RNA metabolism. Herein, we performed a comprehensive analysis of the in vivo model of FUS-mediated proteinopathy (ΔFUS(1-359) mice). First, we used the Noldus CatWalk system and confocal microscopy to determine the time of onset of the first clinical symptoms and the appearance of FUS-positive inclusions in the cytoplasm of neuronal cells...
August 2018: Neurogenetics
A Catania, R Battini, T Pippucci, R Pasquariello, M L Chiapparini, M Seri, B Garavaglia, G Zorzi, N Nardocci, D Ghezzi, V Tiranti
TFG (tropomyosin-receptor kinase fused gene) encodes an essential protein in the regulation of vesicular trafficking between endoplasmic reticulum and Golgi apparatus. The homozygous variant c.316C > T within TFG has been previously associated with a complicated hereditary spastic paraplegia (HSP) phenotype in two unrelated Indian families. Here, we describe the first Italian family with two affected siblings harboring the same variant, who in childhood were classified as infantile neuroaxonal dystrophy (INAD) based on clinical and neuropathological findings...
August 2018: Neurogenetics
Zied Landoulsi, Fatma Laatar, Eric Noé, Saloua Mrabet, Mouna Ben Djebara, Guillaume Achaz, Caroline Nava, Stéphanie Baulac, Imen Kacem, Amina Gargouri-Berrechid, Riadh Gouider, Eric Leguern
Genetic generalized epilepsies (GGE) (childhood absence epilepsy (CAE), juvenile myoclonic epilepsy (JME) and epilepsy with generalized tonic-clonic seizures (GTCS)) are mainly determined by genetic factors. Since few mutations were identified in rare families with autosomal dominant GGE, a polygenic inheritance was suspected in most patients. Recent studies on large American or European cohorts of sporadic cases showed that susceptibility genes were numerous although their variants were rare, making their identification difficult...
August 2018: Neurogenetics
R C Caylor, L Grote, I Thiffault, E G Farrow, L Willig, S Soden, S M Amudhavalli, A J Nopper, K A Horii, E Fleming, J Jenkins, H Welsh, M Ilyas, K Engleman, A Abdelmoity, C J Saunders
Tuberous sclerosis complex (TSC) is an autosomal-dominant neurocutaneous disorder characterized by lesions and benign tumors in multiple organ systems including the brain, skin, heart, eyes, kidneys, and lungs. The phenotype is highly variable, although penetrance is reportedly complete. We report the molecular diagnosis of TSC in individuals exhibiting extreme intra-familial variability, including the incidental diagnosis of asymptomatic family members. Exome sequencing was performed in three families, with probands referred for epilepsy, autism, and absent speech (Family 1); epileptic spasms (Family 2); and connective tissue disorders (Family 3...
August 2018: Neurogenetics
Chin-An Yang, I-Ching Chou, Der-Yang Cho, Chien-Yu Lin, Hsi-Yuan Huang, Yu-Chen Ho, Ting-Yuan Liu, Ying-Hsuan Li, Jan-Gowth Chang
Dandy-Walker malformation (DWM) has been reported to have heterogeneous causes, including mutations in genes of fibroblast growth factors and in genes in the sonic hedgehog (Shh) signaling pathway. Here, we identified an activating cancerous inhibitor of protein phosphatase 2A (CIP2A) p.D269V mutation, located at the predicted protein-protein interaction groove, as a novel genetic cause of Dandy-Walker variant (DWV). CIP2A has been reported as an oncoprotein promoting tumor survival via inhibition of protein phosphatase 2A (PP2A)...
August 2018: Neurogenetics
Jessika Johannsen, Fanny Kortüm, Georg Rosenberger, Kristin Bokelmann, Markus A Schirmer, Jonas Denecke, René Santer
The human WWOX (WW domain-containing oxidoreductase) gene, originally known as a tumor suppressor gene, has been shown to be important for brain function and development. In recent years, mutations in WWOX have been associated with a wide phenotypic spectrum of autosomal recessively inherited neurodevelopmental disorders. Whole exome sequencing was completed followed by Sanger sequencing to verify segregation of the identified variants. Functional WWOX analysis was performed in fibroblasts of one patient. Transcription and translation were assessed by quantitative real-time PCR and Western blotting...
August 2018: Neurogenetics
A Afek, L Tagliafierro, O C Glenn, D B Lukatsky, R Gordan, O Chiba-Falek
Short structural variants-variants other than single nucleotide polymorphisms-are hypothesized to contribute to many complex diseases, possibly by modulating gene expression. However, the molecular mechanisms by which noncoding short structural variants exert their effects on gene regulation have not been discovered. Here, we study simple sequence repeats (SSRs), a common class of short structural variants. Previously, we showed that repetitive sequences can directly influence the binding of transcription factors to their proximate recognition sites, a mechanism we termed non-consensus binding...
August 2018: Neurogenetics
Tamar Harel, Debra Q Y Quek, Bernice H Wong, Amaury Cazenave-Gassiot, Markus R Wenk, Hao Fan, Itai Berger, Dorit Shmueli, Avraham Shaag, David L Silver, Orly Elpeleg, Shimon Edvardson
The major facilitator superfamily domain-containing protein 2A (MFSD2A) is a constituent of the blood-brain barrier and functions to transport lysophosphatidylcholines (LPCs) into the central nervous system. LPCs such as that derived from docosahexanoic acid (DHA) are indispensable to neurogenesis and maintenance of neurons, yet cannot be synthesized within the brain and are dependent on MFSD2A for brain uptake. Recent studies have implicated MFSD2A mutations in lethal and non-lethal microcephaly syndromes, with the severity correlating to the residual activity of the transporter...
July 24, 2018: Neurogenetics
Alejandro Leal, Sixto Bogantes-Ledezma, Arif B Ekici, Steffen Uebe, Christian T Thiel, Heinrich Sticht, Martin Berghoff, Corinna Berghoff, Bernal Morera, Michael Meisterernst, André Reis
Charcot-Marie-Tooth disease (CMT) represents a heterogeneous group of hereditary peripheral neuropathies. We previously reported a CMT locus on chromosome 19q13.3 segregating with the disease in a large Costa Rican family with axonal neuropathy and autosomal recessive pattern of inheritance (CMT2B2). We proposed a homozygous missense variant in the Mediator complex 25 (MED25) gene as causative of the disease. Nevertheless, the fact that no other CMT individuals with MED25 variants were reported to date led us to reevaluate the original family...
July 24, 2018: Neurogenetics
R C Caylor, L Grote, I Thiffault, E G Farrow, L Willig, S Soden, S M Amudhavalli, A J Nopper, K A Horii, E Fleming, J Jenkins, H Welsh, M Ilyas, K Engleman, A Abdelmoity, C J Saunders
The published online version contain mistake in the author list. Instead of "A.M.Ilyas" it should have been "M.Ilyas ".
July 11, 2018: Neurogenetics
Maria Steenhof, Maria Kibæk, Martin J Larsen, Mette Christensen, Allan Meldgaard Lund, Klaus Brusgaard, Jens Michael Hertz
Mutations in ALDH18A1 can cause autosomal recessive and dominant hereditary spastic paraplegia and autosomal recessive and dominant cutis laxa. ALDH18A1 encodes delta-1-pyrroline-5-carboxylate synthetase (P5CS), which consists of two domains, the glutamate 5-kinase (G5K) and the gamma-glutamyl phosphate reductase (GR5P) domain. The location of the mutations in the gene has influence on whether the amino acid levels are affected. Mutations affecting the G5K domain have previously been found to cause reduced plasma levels of proline, citrulline and arginine, whereas such effect is not seen with mutations affecting the GR5P domain...
May 12, 2018: Neurogenetics
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