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Genetic neuropathies

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https://www.readbyqxmd.com/read/28741102/the-range-of-neurological-complications-in-chikungunya-fever
#1
T Cerny, M Schwarz, U Schwarz, J Lemant, P Gérardin, E Keller
BACKGROUND: Chikungunya fever is a globally spreading mosquito-borne disease that shows an unexpected neurovirulence. Even though the neurological complications have been a major cause of intensive care unit admission and death, to date, there is no systematic analysis of their spectrum available. OBJECTIVE: To review evidence of neurological manifestations in Chikungunya fever and map their epidemiology, clinical spectrum, pathomechanisms, diagnostics, therapies and outcomes...
May 25, 2017: Neurocritical Care
https://www.readbyqxmd.com/read/28731162/a-homozygous-myo7a-mutation-associated-to-usher-syndrome-and-unilateral-auditory-neuropathy-spectrum-disorder
#2
Hong Xia, Pengzhi Hu, Lamei Yuan, Wei Xiong, Hongbo Xu, Junhui Yi, Zhijian Yang, Xiong Deng, Yi Guo, Hao Deng
Usher syndrome (USH) is an autosomal recessive disorder characterized by sensorineural hearing loss, progressive visual loss and night blindness due to retinitis pigmentosa (RP), with or without vestibular dysfunction. The purpose of this study was to detect the causative gene in a consanguineous Chinese family with USH. A c.3696_3706del (p.R1232Sfs*72) variant in the myosin VIIa gene (MYO7A) was identified in the homozygous state by exome sequencing. The co‑segregation of the MYO7A c.3696_3706del variant with the phenotype of deafness and progressive visual loss in the USH family was confirmed by Sanger sequencing...
July 21, 2017: Molecular Medicine Reports
https://www.readbyqxmd.com/read/28725025/an-atypical-case-of-spg56-cyp2u1-related-spastic-paraplegia-presenting-with-delayed-myelination
#3
Gaku Minase, Satoko Miyatake, Shin Nabatame, Hiroshi Arai, Eriko Koshimizu, Takeshi Mizuguchi, Mitsuko Nakashima, Noriko Miyake, Hirotomo Saitsu, Toshinobu Miyamoto, Kazuo Sengoku, Naomichi Matsumoto
Hereditary spastic paraplegia (HSP) is a neurological disorder characterized by a progressive spasticity and muscle weakness of the lower limbs. It is divided into two subtypes, uncomplicated and complicated forms. Biallelic mutations in the cytochrome P450 2U1 gene (CYP2U1) are associated with spastic paraplegia type 56 (SPG56), manifesting both uncomplicated and complicated HSP. Accompanying clinical features include intellectual disability, dystonia, cerebellar ataxia, subclinical peripheral neuropathy, visual impairment, as well as abnormalities in brain magnetic resonance imaging...
July 20, 2017: Journal of Human Genetics
https://www.readbyqxmd.com/read/28716668/incomplete-penetrance-in-mitochondrial-optic-neuropathies
#4
Leonardo Caporali, Alessandra Maresca, Mariantonietta Capristo, Valentina Del Dotto, Francesca Tagliavini, Maria Lucia Valentino, Chiara La Morgia, Valerio Carelli
Incomplete penetrance characterizes the two most frequent inherited optic neuropathies, Leber's Hereditary Optic Neuropathy (LHON) and dominant optic atrophy (DOA), due to genetic errors in the mitochondrial DNA (mtDNA) and the nuclear DNA (nDNA), respectively. For LHON, compelling evidence has accumulated on the complex interplay of mtDNA haplogroups and environmental interacting factors, whereas the nDNA remains essentially non informative. However, a compensatory mechanism of activated mitochondrial biogenesis and increased mtDNA copy number, possibly driven by a permissive nDNA background, is documented in LHON; when successful it maintains unaffected the mutation carriers, but in some individuals it might be hampered by tobacco smoking or other environmental factors, resulting in disease onset...
July 14, 2017: Mitochondrion
https://www.readbyqxmd.com/read/28716262/new-genetic-causes-for-complex-hereditary-spastic-paraplegia
#5
Paulo Victor Sgobbi de Souza, Thiago Bortholin, Renan Braido Dias, Marco Antônio Troccoli Chieia, Stênio Burlin, Fernando George Monteiro Naylor, Wladimir Bocca Vieira de Rezende Pinto, Acary Souza Bulle Oliveira
INTRODUCTION: Hereditary Spastic Paraplegia (HSP) represents a complex and heterogeneous group of rare neurodegenerative disorders that share a common clinical feature of weakness and lower limb spasticity that can occur alone or in combination with a constellation of other neurological or systemic signs and symptoms. Although the core clinical feature of weakness and lower limb spasticity is virtually universal, the genetic heterogeneity is almost uncountable with more than 70 genetic forms described so far...
August 15, 2017: Journal of the Neurological Sciences
https://www.readbyqxmd.com/read/28708635/the-management-of-pediatric-hearing-loss-caused-by-auditory-neuropathy-spectrum-disorder
#6
Nguyen S Pham
PURPOSE OF REVIEW: Auditory neuropathy spectrum disorder (ANSD) is a condition in which auditory testing reveals normal otoacoustic emissions, but auditory brainstem testing is abnormal or absent and speech discrimination is poor. This constellation of findings ostensibly suggests that the cochlea is healthy and an abnormality of conduction or processing of sound occurs along the nerve fibers. As more is learned about this condition, it is becoming clear that ANSD describes heterogeneous, distinct clinical entities that must be taken into account when devising treatment modalities...
July 13, 2017: Current Opinion in Otolaryngology & Head and Neck Surgery
https://www.readbyqxmd.com/read/28708305/a-novel-variant-of-dhh-in-a-familial-case-of-46-xy-disorder-of-sex-development-insights-from-molecular-dynamics-simulations
#7
Francoise Paris, Delphine Flatters, Sandrine Caburet, Bérangère Legois, Nadège Servant, Hervé Lefebvre, Charles Sultan, Reiner A Veitia
OBJECTIVE: Disorders of sex development (DSD) are a heterogeneous group of conditions affecting the differentiation and development of the internal and external genitalia. Here, we aimed at identifying the genetic cause of DSD in two 46,XY sisters from a consanguineous family. DESIGN: We performed a whole-exome sequencing of two 46,XY female individuals. Sanger sequencing was used to validate the most likely candidate variant, affecting the desert hedgehog (DHH) gene...
July 14, 2017: Clinical Endocrinology
https://www.readbyqxmd.com/read/28708278/whole-exome-sequencing-is-a-valuable-diagnostic-tool-for-inherited-peripheral-neuropathies-outcomes-from-a-cohort-of-50-families
#8
Taila Hartley, Justin D Wagner, Jodi Warman-Chardon, Martine Tétreault, Lauren Brady, Steven Baker, Mark Tarnopolsky, Pierre R Bourque, Jillian S Parboosingh, Christopher Smith, Brenda McInnes, A Micheil Innes, Francois Bernier, Cynthia J Curry, Grace Yoon, Gabriella A Horvath, Eric Bareke, Jacek Majewski, Dennis E Bulman, David A Dyment, Kym M Boycott
The inherited peripheral neuropathies (IPNs) are characterized by marked clinical and genetic heterogeneity and include relatively frequent presentations such as Charcot-Marie-Tooth disease and hereditary motor neuropathy, as well as more rare conditions where peripheral neuropathy is associated with additional features. There are over 250 genes known to cause IPN-related disorders but it is estimated that in ~50% of affected individuals a molecular diagnosis is not achieved. In this study, we examine the diagnostic utility of whole-exome sequencing (WES) in a cohort of 50 families with one or more affected individuals with a molecularly undiagnosed IPN with or without additional features...
July 14, 2017: Clinical Genetics
https://www.readbyqxmd.com/read/28708086/celiac-disease-presenting-with-peripheral-neuropathy-in-children-a-case-report
#9
Alessandra Pacitto, Alessandra Paglino, Lorenza Di Genova, Alberto Leonardi, Edoardo Farinelli, Nicola Principi, Giuseppe di Cara, Susanna Esposito
Background: Clinically relevant neurological manifestations in children with celiac disease (CD) are unusual, especially when they are considered as signs of the onset of the disease. In this paper, a case of Guillain-Barrè syndrome (GBS) as the first manifestation of CD in a 23-month-old child is reported. Case presentation: We describe a case of CD onset with peripheral neuropathy in a 23-month-old Bulgarian boy presenting with a sudden refusal to walk and absence of deep tendon reflexes in both lower limbs...
July 14, 2017: International Journal of Environmental Research and Public Health
https://www.readbyqxmd.com/read/28704293/analysis-of-neural-crest-cells-from-charcot-marie-tooth-disease-patients-demonstrates-disease-relevant-molecular-signature
#10
Fukiko Kitani-Morii, Keiko Imamura, Takayuki Kondo, Ryo Ohara, Takako Enami, Ran Shibukawa, Takuya Yamamoto, Kazuya Sekiguchi, Junya Toguchida, Toshiki Mizuno, Masanori Nakagawa, Haruhisa Inoue
Charcot-Marie-Tooth disease (CMT) is the most common inherited neuropathy. The majority of CMT is demyelinating type (demyelinating CMT) caused by Schwann cell involvement. Although a large number of genes responsible for demyelinating CMT have been found, the common molecular target of the pathophysiology caused by these different genes in demyelinating CMT is still unknown. We generated induced pluripotent stem cells (iPSCs) from healthy controls and patients with demyelinating CMT caused by duplication in peripheral myelin protein 22 kDa (PMP22) or point mutations in myelin protein zero (MPZ) or early growth response 2 (EGR2)...
July 12, 2017: Neuroreport
https://www.readbyqxmd.com/read/28697165/association-of-cyp3a5-expression-and-vincristine-neurotoxicity-in-pediatric-malignancies-in-turkish-population
#11
Hülya Kayilioğlu, Ulker Kocak, Derya Kan Karaer, Emriye F Percin, Ertan Sal, Funda Tekkesin, Melek Isik, Nergiz Oner, Fatma B Belen, Ebru Yilmaz Keskin, Arzu Okur, Meryem Albayrak, Zuhre Kaya, Faruk G Pinarli, Idil Yenicesu, Ceyda Karadeniz, Aynur Oguz, Turkiz Gursel
Vincristine is a widely used chemotherapeutic agent in the treatment of childhood malignancies. Neuropathy is the most common adverse effect. CYP3A4 and CYP3A5 enzymes of cytochrome p450 enzyme system are responsible in vincristine metabolism. Genetic polymorphism may alter the vincristine metabolism and the neurotoxicity rate. In this study, distribution of CYP3A5 alleles among Turkish children with malignancies, relation between CYP3A5 genotype and neurotoxicity rates, as well as severity and duration of neuropathy and total vincristine doses were investigated...
July 10, 2017: Journal of Pediatric Hematology/oncology
https://www.readbyqxmd.com/read/28695690/cerebral-vasospasm-in-acute-porphyria
#12
P Olivier, D Van Melkebeke, P-J Honoré, L Defreyne, D Hemelsoet
BACKGROUND AND PURPOSE: Porphyrias are a group of inherited metabolic disorders resulting from a specific deficiency along the pathway of haem biosynthesis. A clinical classification distinguishes acute from non-acute porphyrias considering the occurrence of life-threatening neurovisceral attacks, presenting with abdominal pain, neuropsychiatric disturbance and neuropathy. Vasospasm is a very rare complication that can occur in all major types of acute porphyria. METHODS: We describe a porphyric crisis with vasospasm in a woman with previously undiagnosed acute porphyria...
July 10, 2017: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/28687974/syne1-related-cerebellar-ataxia-presents-with-variable-phenotypes-in-a-consanguineous-family-from-turkey
#13
E Yucesan, Sibel A Ugur Iseri, B Bilgic, Z Gormez, B Bakir Gungor, A Sarac, O Ozdemir, M Sagiroglu, H Gurvit, H Hanagasi, U Ozbek
SYNE1 related autosomal recessive cerebellar ataxia type 1 (ARCA1) is a late-onset cerebellar ataxia with slow progression originally demonstrated in French-Canadian populations of Quebec, Canada. Nevertheless, recent studies on SYNE1 ataxia have conveyed the condition from a geographically limited pure cerebellar recessive ataxia to a complex multisystem phenotype that is relatively common on the global scale. To determine the underlying genetic cause of the ataxia phenotype in a consanguineous family from Turkey presenting with very slow progressive cerebellar symptoms including dysarthria, dysmetria, and gait ataxia, we performed SNP-based linkage analysis in the family along with whole exome sequencing (WES) in two affected siblings...
July 7, 2017: Neurological Sciences
https://www.readbyqxmd.com/read/28672034/skin-globotriaosylceramide-3-deposits-are-specific-to-fabry-disease-with-classical-mutations-and-associated-with-small-fibre-neuropathy
#14
Rocco Liguori, Alex Incensi, Silvia de Pasqua, Renzo Mignani, Enrico Fileccia, Marisa Santostefano, Elena Biagini, Claudio Rapezzi, Silvia Palmieri, Ilaria Romani, Walter Borsini, Alessandro Burlina, Roberto Bombardi, Marco Caprini, Patrizia Avoni, Vincenzo Donadio
BACKGROUND: Fabry Disease (FD) is characterized by globotriaosylceramide-3 (Gb3) accumulation in several tissues and a small fibre neuropathy (SFN), however the underlying mechanisms are poorly known. This study aimed to: 1) ascertain the presence of Gb3 deposits in skin samples, by an immunofluorescence method collected from FD patients with classical GLA mutations or late-onset FD variants or GLA polymorphisms; 2) correlate skin GB3 deposits with skin innervation. METHODS: we studied 52 genetically-defined FD patients (32 with classical GLA mutations and 20 with late-onset variants or GLA polymorphisms), 15 patients with SFN associated with a specific cause and 22 healthy controls...
2017: PloS One
https://www.readbyqxmd.com/read/28665811/small-fibre-neuropathy
#15
Daniele Cazzato, Giuseppe Lauria
PURPOSE OF REVIEW: To provide a review on the state-of-art of clinical features, diagnostics, genetics and treatments of small fibre neuropathy (SFN). RECENT FINDINGS: The spectrum of clinical features has been widened from the classical presentation of burning feet as length-dependent SFN to that of small fibre dysfunction and/or degeneration associated with focal, diffuse and episodic neuropathic pain syndromes. The involvement of small nerve fibres in neurodegenerative diseases has been further defined, challenging the relationship between neuropathic pain symptoms and small fibre loss...
June 29, 2017: Current Opinion in Neurology
https://www.readbyqxmd.com/read/28658676/a-novel-homozygous-sacs-mutation-identified-by-whole-exome-sequencing-in-a-consanguineous-family-with-autosomal-recessive-spastic-ataxia-of-charlevoix-saguenay
#16
Hui Zeng, Jian-Guang Tang, Yi-Feng Yang, Zhi-Ping Tan, Jie-Qiong Tan
Autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS) is a hereditary neurological disorder mostly manifested with a classical triad: progressive early-onset cerebellar ataxia, lower limb pyramidal signs, and peripheral neuropathy. We employed whole-exome sequencing and bioinformatics to identify the genetic cause in an ARSACS patient from a consanguineous family. Based on whole-exome sequences of the patient and her healthy parents, a novel homozygous deletion variant (NM_014363: c.9495_9508del; p...
June 29, 2017: Cytogenetic and Genome Research
https://www.readbyqxmd.com/read/28652523/a-case-of-hereditary-neuropathy-with-liability-to-pressure-palsies-due-to-push-up-exercise
#17
Takumi Nakamura, Takeshi Kawarabayashi, Yusuke Seino, Mikio Shoji
A 17-year-old man with no familial history developed motor and sensory disturbance of the left upper limb a few days after starting push-up exercise. Neurological examination revealed broad weakness and radial sensory disturbance of the left upper limb and magnetic resonance neurography showed laterality of brachial plexus intensity signals. Therefore, we suspected left brachial plexopathy. However, a nerve conduction study showed a broad disturbance that could not be explained by only brachial plexopathy. Genetic tests revealed a diagnosis of hereditary neuropathy with liability to pressure palsies (HNPP)...
June 24, 2017: Rinshō Shinkeigaku, Clinical Neurology
https://www.readbyqxmd.com/read/28652416/mitochondrial-membrane-dynamics-and-inherited-optic-neuropathies
#18
REVIEW
Eleni Bagli, Anastasia K Zikou, Niki Agnantis, Georgios Kitsos
Inherited optic neuropathies are a genetically diverse group of disorders mainly characterized by visual loss and optic atrophy. Since the first recognition of Leber's hereditary optic neuropathy, several genetic defects altering primary mitochondrial respiration have been proposed to contribute to the development of syndromic and non-syndromic optic neuropathies. Moreover, the genomics and imaging revolution in the past decade has increased diagnostic efficiency and accuracy, allowing recognition of a link between mitochondrial dynamics machinery and a broad range of inherited neurodegenerative diseases involving the optic nerve...
July 2017: In Vivo
https://www.readbyqxmd.com/read/28650878/leber-hereditary-optic-neuropathy-bridging-the-translational-gap
#19
Neringa Jurkute, Patrick Yu-Wai-Man
PURPOSE OF REVIEW: Leber hereditary optic neuropathy (LHON) is the most common primary mitochondrial DNA (mtDNA) genetic disorder in the population. We address the clinical evolution of the disease, the secondary etiological factors that could contribute to visual loss, and the challenging task of developing effective treatments. RECENT FINDINGS: LHON is characterized by a preclinical phase that reflects retinal ganglion cell (RGC) dysfunction before rapid visual deterioration ensues...
June 24, 2017: Current Opinion in Ophthalmology
https://www.readbyqxmd.com/read/28649285/introduction-of-the-diagene-study-clinical-characteristics-pathophysiology-and-determinants-of-vascular-complications-of-type-2-diabetes
#20
Thijs T W van Herpt, Roosmarijn F H Lemmers, Mandy van Hoek, Janneke G Langendonk, Ronald J Erdtsieck, Bert Bravenboer, Annelies Lucas, Monique T Mulder, Harm R Haak, Aloysius G Lieverse, Eric J G Sijbrands
BACKGROUND: Type 2 diabetes is a major healthcare problem. Glucose-, lipid-, and blood pressure-lowering strategies decrease the risk of micro- and macrovascular complications. However, a substantial residual risk remains. To unravel the etiology of type 2 diabetes and its complications, large-scale, well-phenotyped studies with prospective follow-up are needed. This is the goal of the DiaGene study. In this manuscript, we describe the design and baseline characteristics of the study...
2017: Diabetology & Metabolic Syndrome
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