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JOURNAL ARTICLE
Stéphane Abramowicz, Alexandre Dentel, Maxime Chouraqui, Bahram Bodaghi, Sara Touhami
Typical retinitis pigmentosa (RP) may not be the only retinal phenotype encountered in ataxia with vitamin E deficiency (AVED). The following short case series describes a novel form of retinopathy in AVED. We describe two patients with AVED belonging to the same consanguineous sibship. Both presented an unusual retinopathy consisting of scattered, multifocal, nummular, hyperautofluorescent atrophic retinal patches. The retinopathy remained stable under vitamin E supplementation. We hypothesize these changes to be the result of arrested AVED-related RP following early supplementation with α-tocopherol acetate...
December 18, 2023: Neurogenetics
#22
JOURNAL ARTICLE
Wendi Huang, Ying Yang, Fengyu Che, Haibin Wu, Ying Ma, Yujuan Zhao
Synaptotagmin-1 (SYT1) plays a pivotal role in regulating presynaptic processes, including neurotransmitter release. SYT1 variants perturb synaptic vesicle endocytosis and exocytosis, resulting in a series of neurodevelopmental disorders defined as Baker-Gordon syndrome. Herein, we report the case of a newborn with dysmorphic facial appearance, severe hypotonia, poor feeding, gastroesophageal reflux, and an inability to eat and breathe, diagnosed with Baker-Gordon syndrome. A retrospective search was performed on a newborn with Baker-Gordon syndrome...
November 6, 2023: Neurogenetics
#23
JOURNAL ARTICLE
Nishu Tyagi, Bharathram Uppili, Pooja Sharma, Shaista Parveen, Sheeba Saifi, Abhinav Jain, Akhilesh Sonakar, Istaq Ahmed, Shweta Sahni, Uzma Shamim, Avni Anand, Varun Suroliya, Vivekanand Asokachandran, Achal Srivastava, Sridhar Sivasubbu, Vinod Scaria, Mohammed Faruq
An intronic bi-allelic pentanucleotide repeat expansion mutation, (AAGGG)400-2000 , at AAAAG repeat locus in RFC1 gene, is known as underlying genetic cause in cases with cerebellar ataxia, neuropathy, and vestibular areflexia syndrome (CANVAS) and late-onset sporadic ataxia. Biallelic positive cases carry a common recessive risk haplotype, "AAGA," spanning RFC1 gene. In this study, our aim is to find prevalence of bi-allelic (AAGGG)exp in Indian ataxia and other neurological disorders and investigate the complexity of RFC1 repeat locus and its potential association with neurodegenerative diseases in Indian population-based cohorts...
November 2, 2023: Neurogenetics
#24
JOURNAL ARTICLE
Shintaro Aoki, Kazuki Watanabe, Mitsuhiro Kato, Yukihiko Konishi, Kazuo Kubota, Emiko Kobayashi, Mitsuko Nakashima, Hirotomo Saitsu
Sphingomyelin phosphodiesterase 4 (SMPD4) encodes a member of the Mg2+ -dependent, neutral sphingomyelinase family that catalyzes the hydrolysis of the phosphodiester bond of sphingomyelin to form phosphorylcholine and ceramide. Recent studies have revealed that biallelic loss-of-function variants of SMPD4 cause syndromic neurodevelopmental disorders characterized by microcephaly, congenital arthrogryposis, and structural brain anomalies. In this study, three novel loss-of-function SMPD4 variants were identified using exome sequencing (ES) in two independent patients with developmental delays, microcephaly, seizures, and brain structural abnormalities...
October 26, 2023: Neurogenetics
#25
Junping Jiao, Yuping Wang, Yue Hou, Chao Gao, Huimin Shi, Shujuan Tian
No abstract text is available yet for this article.
October 7, 2023: Neurogenetics
#26
REVIEW
Zeyu Zhu, Wenzhe Hou, Yuwen Cao, Haoran Zheng, Wotu Tian, Li Cao
Spastic paraplegia type 76 (SPG76) is a subtype of hereditary spastic paraplegia (HSP) caused by calpain-1 (CAPN1) mutations. Our study described the phenotypic and genetic characteristics of three families with spastic ataxia due to various CAPN1 mutations and further explored the pathogenesis of the two novel mutations. The three patients were 48, 39, and 48 years old, respectively. Patients 1 and 3 were from consanguineous families, while patient 2 was sporadic. Physical examination showed hypertonia, hyperreflexia, and Babinski signs in the lower limbs...
October 2023: Neurogenetics
#27
Mahmoudreza Ashrafi, Reyhaneh Kameli, Sareh Hosseinpour, Ehsan Razmara, Zahra Zamani, Zahra Rezaei, Raziyeh Mashayekhi, Neda Pak, Mohammad Barzegar, Reza Azizimalamiri, Morteza Rezvani Kashani, Nahideh Khosroshahi, Maryam Rasulinezhad, Morteza Heidari, Man Amanat, Alireza Abdi, Bahram Mohammadi, Mahmoud Mohammadi, Gholam Reza Zamani, Reza Shervin Badv, Abdolmajid Omrani, Sedigheh Nikbakht, Ali Hosseini Bereshneh, Mojtaba Movahedinia, Hossein Farshad Moghaddam, Hossein Shojaaldini Ardakani, Masood Ghahvechi Akbari, Mehran Beiraghi Tousi, Mohammad Vafaee Shahi, Firouzeh Hosseini, Masoud Hassanvand Amouzadeh, Seyed Ahmad Hosseini, Ali Nikkhah, Ali Khajeh, Hooman Alizadeh, Bahram Yarali, Mohammad Rohani, Parviz Karimi, Hadi Montazer Lotf Elahi, Seyyed Mohamad Mahdi Hosseiny, Masoumeh Sadat Sadeghzadeh, Hossein Mohebbi, Maryam Hosseini Moghadam, Hajar Aryan, Hassan Vahidnezhad, Mahdieh Soveizi, Bahareh Rabbani, Ali Rabbani, Nejat Mahdieh, Masoud Garshasbi, Ali Reza Tavasoli
No abstract text is available yet for this article.
September 5, 2023: Neurogenetics
#28
JOURNAL ARTICLE
Tahereh Ghorashi, Hossein Darvish, Somayeh Bakhtiari, Abbas Tafakhori, Michael C Kruer, Hossein Mozdarani
Intellectual disability (ID), occurring in syndromic or non-syndromic forms, is the most common neurodevelopmental disorder. Although many cases are caused by single gene defects, ID is highly genetically heterogeneous. Biallelic variants in the transmembrane protein TMEM147 have recently been linked to intellectual disability with dysmorphic facial features. TMEM147 is believed to localize to the endoplasmic reticulum membrane and nuclear envelope and also involved in biogenesis of multi-pass membrane proteins...
September 5, 2023: Neurogenetics
#29
JOURNAL ARTICLE
Saar Anis, Tsvia Fay-Karmon, Simon Lassman, Fadi Shbat, Orit Lesman-Segev, Nofar Mor, Ortal Barel, Dan Dominissini, Odelia Chorin, Elon Pras, Lior Greenbaum, Sharon Hassin-Baer
Alexander disease (AxD) is a rare autosomal dominant leukodystrophy caused by heterozygous mutations in the glial fibrillary acid protein (GFAP) gene. The age of symptoms onset ranges from infancy to adulthood, with variable clinical and radiological manifestations. Adult-onset AxD manifests as a chronic and progressive condition, characterized by bulbar, motor, cerebellar, and other clinical signs and symptoms. Neuroradiological findings typically involve the brainstem and cervical spinal cord. Adult-onset AxD has been described in diverse populations but is rare in Israel...
September 2, 2023: Neurogenetics
#30
JOURNAL ARTICLE
Edouard Palu, Julius Järvilehto, Jana Pennonen, Nadine Huber, Sanna-Kaisa Herukka, Annakaisa Haapasalo, Pirjo Isohanni, Henna Tyynismaa, Mari Auranen, Emil Ylikallio
Charcot-Marie-Tooth disease (CMT) is a heterogeneous set of hereditary neuropathies whose genetic causes are not fully understood. Here, we characterize three previously unknown variants in PMP22 and assess their effect on the recently described potential CMT biomarkers' growth differentiation factor 15 (GDF15) and neurofilament light (NFL): first, a heterozygous PMP22 c.178G > A (p.Glu60Lys) in one mother-son pair with adult-onset mild axonal neuropathy. The variant led to abnormal splicing, confirmed in fibroblasts by reverse transcription PCR...
August 22, 2023: Neurogenetics
#31
JOURNAL ARTICLE
Mahmoudreza Ashrafi, Reyhaneh Kameli, Sareh Hosseinpour, Ehsan Razmara, Zahra Zamani, Zahra Rezaei, Raziyeh Mashayekhi, Neda Pak, Mohammad Barzegar, Reza Azizimalamiri, Morteza Rezvani Kashani, Nahideh Khosroshahi, Maryam Rasulinezhad, Morteza Heidari, Man Amanat, Alireza Abdi, Bahram Mohammadi, Mahmoud Mohammadi, Gholam Reza Zamani, Reza Shervin Badv, Abdolmajid Omrani, Sedigheh Nikbakht, Ali Hosseini Bereshneh, Mojtaba Movahedinia, Hossein Farshad Moghaddam, Hossein Shojaaldini Ardakani, Masood Ghahvechi Akbari, Mehran Beiraghi Tousi, Mohammad Vafaee Shahi, Firouzeh Hosseini, Masoud Hassanvand Amouzadeh, Seyed Ahmad Hosseini, Ali Nikkhah, Ali Khajeh, Hooman Alizadeh, Bahram Yarali, Mohammad Rohani, Parviz Karimi, Hadi Montazer Lotf Elahi, Seyyed Mohamad Mahdi Hosseiny, Masoumeh Sadat Sadeghzadeh, Hossein Mohebbi, Maryam Hosseini Moghadam, Hajar Aryan, Hassan Vahidnezhad, Mahdieh Soveizi, Bahareh Rabbani, Ali Rabbani, Nejat Mahdieh, Masoud Garshasbi, Ali Reza Tavasoli
Leukodystrophies (LDs) are a heterogeneous group of progressive neurological disorders and characterized by primary involvement of white matter of the central nervous system (CNS). This is the first report of the Iranian LD Registry database to describe the clinical, radiological, and genomic data of Persian patients with leukodystrophies. From 2016 to 2019, patients suspicious of LDs were examined followed by a brain magnetic resonance imaging (MRI). A single gene testing or whole-exome sequencing (WES) was used depending on the neuroradiologic phenotypes...
August 19, 2023: Neurogenetics
#32
JOURNAL ARTICLE
Family and literature analysis demonstrates phenotypic effect of two variants in the calpain-3 gene.
Maike Tomforde, Meike Steinbach, Tobias B Haack, Gregor Kuhlenbäumer
Both, recessive (LGMD R1) and dominant (LGMD D4) inheritance occur in calpain 3-related muscular dystrophy. We report a family with calpain-related muscular dystrophy caused by two known variants in the calpain 3 gene (CAPN3, NM_000070.3; (I) c.700G>A, p.Gly234Arg and (II) c.1746-20C>G, p.?). Three family members are compound heterozygous and exhibit a relatively homogeneous phenotype characterized by progressive proximal weakness starting in the third to fourth decade of life in the shoulder girdle and spreading to the legs...
August 17, 2023: Neurogenetics
#33
JOURNAL ARTICLE
Yang You, Xinyi Men, Wenjuan Wu, Shan Liu, Xuexin He, Suzhen Sun, Xiuxia Wang, Baoguang Li
The cyclin-dependent kinase like 5 (CDKL5) gene variation is X-linked dominant and is associated with type 2 developmental and epileptic encephalopathy (DEE). Although numerous cases of CDKL5 have been reported, there is limited discussion regarding functional verification. We described two children with DEE caused by de novo variations of CDKL5 gene, analyzed their clinical manifestations, and performed genetic testing on their gene variation sites. The two cases presented with tonic seizures followed by epileptic spasms, indicative of refractory epilepsy...
August 16, 2023: Neurogenetics
#34
JOURNAL ARTICLE
Nana Li, Hong Kang, Yanna Zou, Zhen Liu, Ying Deng, Meixian Wang, Lu Li, Hong Qin, Xiaoqiong Qiu, Yanping Wang, Jun Zhu, Mark Agostino, Julian I-T Heng, Ping Yu
Intellectual disability (ID) is a common neurodevelopmental disorder characterized by significantly impaired adaptive behavior and cognitive capacity. High throughput sequencing approaches have revealed the genetic etiologies for 25-50% of ID patients, while inherited genetic mutations were detected in <5% cases. Here, we investigated the genetic cause for non-syndromic ID in a Han Chinese family. Whole genome sequencing was performed on identical twin sisters diagnosed with ID, their respective children, and their asymptomatic parents...
July 31, 2023: Neurogenetics
#35
JOURNAL ARTICLE
Lianghao Si, Zhanjun Wang, Xu-Ying Li, Yang Song, Tingyan Yao, Erhe Xu, Xianling Wang, Chaodong Wang
Brain iron accumulation disorders (BIADs) are a group of diseases characterized by iron overload in deep gray matter nuclei, which is a common feature of neurodegenerative diseases. Although genetic factors have been reported to be one of the etiologies, much more details about the genetic background and molecular mechanism of BIADs remain unclear. This study aimed to illustrate the genetic characteristics of BIADs and clarify their molecular mechanisms. A total of 84 patients with BIADs were recruited from April 2018 to October 2022 at Xuanwu Hospital...
July 15, 2023: Neurogenetics
#36
JOURNAL ARTICLE
S Skoczylas, P Jakiel, T Płoszaj, K Gadzalska, M Borowiec, A Pastorczak, H Moczulska, M Malarska, A Eckersdorf-Mastalerz, E Budzyńska, A Zmysłowska
BACKGROUND: Intellectual disability (ID) affects 1-3% of the world population. The number of genes whose dysfunctions cause intellectual disability is increasing. In addition, new gene associations are constantly being discovered, as well as specific phenotypic features for already identified genetic alterations are being described. The aim of our study was to search for pathogenic variants in genes responsible for moderate to severe intellectual disability and epilepsy, using a panel of targeted next-generation sequencing (tNGS) for diagnosis...
July 5, 2023: Neurogenetics
#37
REVIEW
Daniele Galatolo, Rosanna Trovato, Arianna Scarlatti, Salvatore Rossi, Gemma Natale, Giovanna De Michele, Melissa Barghigiani, Ettore Cioffi, Alessandro Filla, Giusi Bilancieri, Carlo Casali, Filippo M Santorelli, Gabriella Silvestri, Alessandra Tessa
Hereditary spastic paraplegia (HSP) refers to a group of heterogeneous neurological disorders mainly characterized by corticospinal degeneration (pure forms), but sometimes associated with additional neurological and extrapyramidal features (complex HSP). The advent of next-generation sequencing (NGS) has led to huge improvements in knowledge of HSP genetics and made it possible to clarify the genetic etiology of hundreds of "cold cases," accelerating the process of reaching a molecular diagnosis. The different NGS-based strategies currently employed as first-tier approaches most commonly involve the use of targeted resequencing panels and exome sequencing, whereas genome sequencing remains a second-tier approach because of its high costs...
July 2023: Neurogenetics
#38
JOURNAL ARTICLE
Frederike L Harms, Deike Weiss, Jasmin Lisfeld, Malik Alawi, Kerstin Kutsche
DNM1 developmental and epileptic encephalopathy (DEE) is characterized by severe to profound intellectual disability, hypotonia, movement disorder, and refractory epilepsy, typically presenting with infantile spasms. Most of the affected individuals had de novo missense variants in DNM1. DNM1 undergoes alternative splicing that results in expression of six different transcript variants. One alternatively spliced region affects the tandemly arranged exons 10a and 10b, producing isoforms DNM1A and DNM1B, respectively...
July 2023: Neurogenetics
#39
JOURNAL ARTICLE
Sophie Hebestreit, Janine Schwahn, Vesile Sandikci, Mate E Maros, Ivan Valkadinov, Rüstem Yilmaz, Lukas Eckrich, Seyed Babak Loghmani, Hendrik Lesch, Julian Conrad, Holger Wenz, Anne Ebert, David Brenner, Jochen H Weishaupt
Primary familial brain calcification (PFBC; formerly Fahr's disease) and early-onset Alzheimer's disease (EOAD) may share partially overlapping pathogenic principles. Although the heterozygous loss-of-function mutation c.1523 + 1G > T in the PFBC-linked gene SLC20A2 was detected in a patient with asymmetric tremor, early-onset dementia, and brain calcifications, CSF β-amyloid parameters and FBB-PET suggested cortical β-amyloid pathology. Genetic re-analysis of exome sequences revealed the probably pathogenic missense mutation c...
June 21, 2023: Neurogenetics
#40
JOURNAL ARTICLE
Junping Jiao, Yuping Wang, Yue Hou, Chao Gao, Huimin Shi, Shujuan Tian
Unlike the 1p36 microdeletion syndrome, which has been extensively described, 1p36.3 microduplications have rarely been reported. We report the two siblings of familial 1p36.3 microduplication, presenting with a severe global developmental delay, epilepsy, and a few dysmorphic features. They were referred to moderate-to-severe developmental delay (DD) and intellectual disability (ID). Both were considered eyelid myoclonus with absence of epilepsy (Jeavons syndrome). The EEG is characterized by widespread 2...
June 8, 2023: Neurogenetics
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