keyword
https://read.qxmd.com/read/33646413/challenges-and-controversies-in-the-genetic-diagnosis-of-hereditary-spastic-paraplegia
#1
REVIEW
Lydia Saputra, Kishore Raj Kumar
PURPOSE OF REVIEW: The hereditary spastic paraplegias (HSPs) are a group of disorders characterised by progressive lower limb weakness and spasticity. We address the challenges and controversies involved in the genetic diagnosis of HSP. RECENT FINDINGS: There is a large and rapidly expanding list of genes implicated in HSP, making it difficult to keep gene testing panels updated. There is also a high degree of phenotypic overlap between HSP and other disorders, leading to problems in choosing the right panel to analyse...
February 28, 2021: Current Neurology and Neuroscience Reports
https://read.qxmd.com/read/33646299/transdural-spinal-cord-herniation-an-exceptional-complication-of-thoracoscopic-discectomy-2-dimensional-operative-video
#2
Benjamin Pommier, Michaël Grelat, Rostom Messerer, Sylvain Portet, Cédric Y Barrey
Thoracic disc herniation is a rare and severe condition, whose treatment may have complications including dural tears. Although benign in most cases, dural tears may induce iatrogenic transdural herniation of the spinal cord. The video demonstrates the diagnosis and surgical treatment of iatrogenic transdural herniation of the spinal cord. Here, we report a case of spinal cord herniation after thorascopic treatment of a thoracic disc herniation (DH). A 28-yr-old male presented with several years of left lower extremity weakness and was found to have a T6-7 DH...
February 27, 2021: Operative Neurosurgery (Hagerstown, Md.)
https://read.qxmd.com/read/33642695/physical-therapist-led-swimming-lessons-for-children-with-cerebral-palsy-a-report-of-2-cases
#3
Tadashi Matsuda, Yoshiteru Akezaki, Yoko Tsuji, Kazunori Hamada, Mitsuhiro Ookura
[Purpose] The purpose of this study was to report that a physical therapist qualified for swimming instruction can provide swimming instruction to children with spastic paraplegia due to cerebral palsy. We examined the role of the physical therapist in the support. [Participants and Methods] Two elementary school children with cerebral palsy participated in this study. The swimming program consisting of 6 sessions was performed over 6 months in an indoor swimming pool. Each session lasted for 30 minutes and was instructed by a trained physical therapist...
February 2021: Journal of Physical Therapy Science
https://read.qxmd.com/read/33638609/the-investigation-of-genetic-and-clinical-features-in-patients-with-hereditary-spastic-paraplegia-in-central-southern-china
#4
Chen Wang, Yun-Jian Zhang, Ci-Hao Xu, Li De, Zhi-Jun Liu, Yan Wu
OBJECTIVE: Hereditary spastic paraplegias (HSP) is a clinically and genetically heterogeneous group of neurodegenerative disorders. We describe the genetic and clinical features of a cohort of five HSP families from central-southern China. METHODS: Using targeted exome-sequencing technology, we investigated the genetic and clinical features in five HSP families. We reviewed the clinical histories of these patients as well as the molecular and functional characterization of the associated gene variants...
February 27, 2021: Molecular Genetics & Genomic Medicine
https://read.qxmd.com/read/33637369/investigating-zfyve26-mutations-in-a-taiwanese-cohort-with-hereditary-spastic-paraplegia
#5
Shao-Lun Hsu, Yi-Jiun Lu, Yu-Shuen Tsai, Hua-Chuan Chao, Jong-Ling Fuh, Yi-Chu Liao, Yi-Chung Lee
BACKGROUND/PURPOSE: Hereditary spastic paraplegia (HSP) is a heterogeneous group of inherited neurodegenerative disorders characterized by slowly progressive lower limbs spasticity and weakness. HSP type 15 (SPG15) is an autosomal recessive subtype caused by ZFYVE26 mutations. The aim of this study was to investigate the frequency and clinical and genetic features of ZFYVE26 mutations in a Taiwanese HSP cohort. METHODS: Mutational analysis of the coding regions of ZFYVE26 was performed by targeted resequencing in the 195 unrelated Taiwanese patients with HSP...
February 24, 2021: Journal of the Formosan Medical Association
https://read.qxmd.com/read/33634973/improving-mitochondria-and-er-stability-helps-eliminate-upper-motor-neuron-degeneration-that-occurs-due-to-msod1-toxicity-and-tdp-43-pathology
#6
Barış Genç, Mukesh Gautam, Öge Gözütok, Ina Dervishi, Santana Sanchez, Gashaw M Goshu, Nuran Koçak, Edward Xie, Richard B Silverman, P Hande Özdinler
BACKGROUND: Upper motor neurons (UMNs) are a key component of motor neuron circuitry. Their degeneration is a hallmark for diseases, such as hereditary spastic paraplegia (HSP), primary lateral sclerosis (PLS), and amyotrophic lateral sclerosis (ALS). Currently there are no preclinical assays investigating cellular responses of UMNs to compound treatment, even for diseases of the UMNs. The basis of UMN vulnerability is not fully understood, and no compound has yet been identified to improve the health of diseased UMNs: two major roadblocks for building effective treatment strategies...
February 2021: Clinical and Translational Medicine
https://read.qxmd.com/read/33618608/mouse-models-for-hereditary-spastic-paraplegia-uncover-a-role-of-pi4k2a-in-autophagic-lysosome-reformation
#7
Mukhran Khundadze, Federico Ribaudo, Adeela Hussain, Henry Stahlberg, Nahal Brocke-Ahmadinejad, Patricia Franzka, Rita-Eva Varga, Milena Zarkovic, Thanakorn Pungsrinont, Miriam Kokal, Ian G Ganley, Christian Beetz, Marc Sylvester, Christian A Hübner
Hereditary spastic paraplegia (HSP) denotes genetically heterogeneous disorders (SPGs) characterized by leg spasticity due to degeneration of corticospinal axons. SPG11 and SPG15 have a similar clinical course and together are the most prevalent autosomal recessive HSP entity. The respective proteins play a role for macroautophagy/autophagy and autophagic lysosome reformation (ALR). Here, we report that spg11 and zfyve26 KO mice developed motor impairments within the same course of time. This correlated with enhanced accumulation of autofluorescent material in neurons and progressive neuron loss...
February 22, 2021: Autophagy
https://read.qxmd.com/read/33612672/a-case-of-oculo-dento-digital-dysplasia-presenting-as-spastic-paraparesis-which-was-successfully-treated-by-intrathecal-baclofen-therapy
#8
Akiko Shinya, Makoto Takahashi, Nozomu Sato, Yoichiro Nishida, Akira Inaba, Motoki Inaji, Takanori Yokota, Satoshi Orimo
A 42-year-old man with a history of migraine and bilateral syndactyly presented with numbness of the extremities and shaking legs, which thus prevented him from working as a carpenter. A neurological examination revealed spastic paraparesis with pathological reflexes on all four extremities. Oculo-dento-digital dysplasia (ODDD) was suspected based on his medical history and characteristic facial appearance including small eye slits, thin mouth, and pinched nose with anteverted nostrils. Genetic tests revealed a gap junction alpha 1 (GJA1) gene mutation and confirmed the diagnosis of ODDD...
February 22, 2021: Internal Medicine
https://read.qxmd.com/read/33602173/a-heterozygous-mutation-in-the-ccdc88c-gene-likely-causes-early-onset-pure-hereditary-spastic-paraplegia-a-case-report
#9
Ashraf Yahia, Zhefan Stephen Chen, Ammar E Ahmed, Sara Emad, Rawaa Adil, Rayan Abubaker, Shaimaa Omer M A Taha, Mustafa A Salih, Liena Elsayed, Ho Yin Edwin Chan, Giovanni Stevanin
BACKGROUND: CCDC88C is a ubiquitously expressed protein with multiple functions, including roles in cell polarity and the development of dendrites in the nervous system. Bi-allelic mutations in the CCDC88C gene cause autosomal recessive congenital hydrocephalus (OMIM #236600). Studies recently linked heterozygous mutations in CCDC88C to the development of the late-onset spinocerebellar ataxia type 40 (OMIM #616053). CASE PRESENTATION: A 48-year-old Sudanese female presented with pure early onset hereditary spastic paraplegia...
February 18, 2021: BMC Neurology
https://read.qxmd.com/read/33600578/ddhd1-knockout-mouse-as-a-model-of-locomotive-and-physiological-abnormality-in-familial-spastic-paraplegia
#10
Takuya Morikawa, Hiroaki Ohishi, Kengo Kosaka, Tomofumi Shimojo, Akihiro Nagano, Itsuki Taniguchi, Ryuta Fujioka, Kosei Moriyama, Motoko Unoki, Masatomo Takahashi, Motonao Nakao, Yoshihiro Izumi, Takeshi Bamba, Hiroyuki Sasaki, Shiroh Miura, Hiroki Shibata
We have previously reported a novel homozygous 4-bp deletion in DDHD1 as the responsible variant for spastic paraplegia type 28 (SPG28;OMIM#609340). The variant causes a frameshift, resulting in a functionally null allele in the patient. DDHD1 encodes phospholipase A1 (PLA1) catalyzing phosphatidylinositol to lysophosphatidylinositol (LPI). To clarify the pathogenic mechanism of SPG28, we established Ddhd1 knockout mice (Ddhd1[-/-]) carrying a 5-bp deletion in Ddhd1, resulting in a premature termination of translation at a position similar to that of the patient...
February 12, 2021: Bioscience Reports
https://read.qxmd.com/read/33598982/evidence-for-non-mendelian-inheritance-in-spastic-paraplegia-7
#11
Mehrdad A Estiar, Eric Yu, Ikhlass Haj Salem, Jay P Ross, Kheireddin Mufti, Fulya Akçimen, Etienne Leveille, Dan Spiegelman, Jennifer A Ruskey, Farnaz Asayesh, Alain Dagher, Grace Yoon, Mark Tarnopolsky, Kym M Boycott, Nicolas Dupre, Patrick A Dion, Oksana Suchowersky, Jean-Francois Trempe, Guy A Rouleau, Ziv Gan-Or
BACKGROUND: Although the typical inheritance of spastic paraplegia 7 is recessive, several reports have suggested that SPG7 variants may also cause autosomal dominant hereditary spastic paraplegia (HSP). OBJECTIVES: We aimed to conduct an exome-wide genetic analysis on a large Canadian cohort of HSP patients and controls to examine the association of SPG7 and HSP. METHODS: We analyzed 585 HSP patients from 372 families and 1175 controls, including 580 unrelated individuals...
February 17, 2021: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/33597748/utilization-of-health-care-providers-by-individuals-with-chronic-spinal-cord-injury
#12
Armin Gemperli, Mirjam Brach, Isabelle Debecker, Inge Eriks-Hoogland, Anke Scheel-Sailer, Elias Ronca
STUDY DESIGN: Questionnaire survey conducted in 2017 as part of the Swiss Spinal Cord Injury Cohort Study (SwiSCI). OBJECTIVES: To elucidate the use of outpatient health care providers by individuals with chronic spinal cord injury in a situation of free choice and ample supply. SETTING: Community, nationwide. METHODS: The frequency of visits was compared to that of a survey conducted five years earlier. Using regression tree analysis, the characteristics of individuals with extensive use of health care providers' services were investigated...
February 17, 2021: Spinal Cord
https://read.qxmd.com/read/33595142/randomized-trial-of-botulinum-toxin-type-a-in-hereditary-spastic-paraplegia-the-spastox-trial
#13
Fabricio Diniz de Lima, Ingrid Faber, Katiane R Servelhere, Maria Fernanda R Bittar, Alberto R M Martinez, Luiza G Piovesana, Melina P Martins, Carlos Roberto Martins, Tatiana Benaglia, Benilton de Sá Carvalho, Anamarli Nucci, Marcondes C França
BACKGROUND: Hereditary spastic paraplegia presents spasticity as the main clinical manifestation, reducing gait quality and producing incapacity. Management with botulinum toxin type A (BoNT-A) is not well elucidated. The objective of the current study was to evaluate the efficacy and safety of BoNT-A in patients with hereditary spastic paraplegias. METHODS: This was a double-blind, randomized, placebo-controlled crossover trial. Each participant was randomly assigned to receive 1 injection session of either BoNT-A (100 IU/2 mL of Prosigne in each adductor magnus and each triceps surae) or saline 0...
February 17, 2021: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/33594065/whole-exome-sequencing-uncovered-highly-penetrant-recessive-mutations-for-a-spectrum-of-rare-genetic-pediatric-diseases-in-bangladesh
#14
Hosneara Akter, Mohammad Shahnoor Hossain, Nushrat Jahan Dity, Md Atikur Rahaman, K M Furkan Uddin, Nasna Nassir, Ghausia Begum, Reem Abdel Hameid, Muhammad Sougatul Islam, Tahrima Arman Tusty, Mohammad Basiruzzaman, Shaoli Sarkar, Mazharul Islam, Sharmin Jahan, Elaine T Lim, Marc Woodbury-Smith, Dimitri James Stavropoulos, Darren D O'Rielly, Bakhrom K Berdeiv, A H M Nurun Nabi, Mohammed Nazmul Ahsan, Stephen W Scherer, Mohammed Uddin
Collectively, rare genetic diseases affect a significant number of individuals worldwide. In this study, we have conducted whole-exome sequencing (WES) and identified underlying pathogenic or likely pathogenic variants in five children with rare genetic diseases. We present evidence for disease-causing autosomal recessive variants in a range of disease-associated genes such as DHH-associated 46,XY gonadal dysgenesis (GD) or 46,XY sex reversal 7, GNPTAB-associated mucolipidosis II alpha/beta (ML II), BBS1-associated Bardet-Biedl Syndrome (BBS), SURF1-associated Leigh Syndrome (LS) and AP4B1-associated spastic paraplegia-47 (SPG47) in unrelated affected members from Bangladesh...
February 16, 2021: NPJ Genomic Medicine
https://read.qxmd.com/read/33581793/hereditary-spastic-paraplegia-type-11-clinicogenetic-lessons-from-339-patients
#15
Juan Du
Hereditary spastic paraplegia type 11 (SPG11) is the most common subtype of autosomal recessive hereditary spastic paraplegia (HSP), to date, there are more than 181 different KIAA1840 gene mutations detected, and yet the genetic landscape of SPG11 is far from complete. To find the clinical and genetic characteristics of SPG11, we performed a reanalysis of the clinical features and genotype-phenotype correlations in all reported studies exhibiting SPG11 mutations. A total of 339 patients were collected, their mean age at onset was 13...
March 2021: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
https://read.qxmd.com/read/33576112/brain-damage-and-gene-expression-across-hereditary-spastic-paraplegia-subtypes
#16
Katiane R Servelhere, Thiago Junqueira Ribeiro Rezende, Fabrício Diniz de Lima, Mariana Rabelo de Brito, Renan Flávio de França Nunes, Raphael F Casseb, José Luiz Pedroso, Orlando Graziani P Barsottini, Fernando Cendes, Marcondes C França
BACKGROUND: Spinal cord has been considered the main target of damage in hereditary spastic paraplegias (HSPs), but mounting evidence indicates that the brain is also affected. Despite this, little is known about the brain signature of HSPs, in particular regarding stratification for specific genetic subtypes. OBJECTIVE: We aimed to characterize cerebral and cerebellar damage in five HSP subtypes (9 SPG3A, 27 SPG4, 10 SPG7, 9 SPG8, and 29 SPG11) and to uncover the clinical and gene expression correlates...
February 11, 2021: Movement Disorders: Official Journal of the Movement Disorder Society
https://read.qxmd.com/read/33569519/autosomal-recessive-cerebellar-ataxia-with-spasticity-due-to-a-rare-mutation-in-gba2-gene-in-a-large-consanguineous-saudi-family
#17
Hussein Algahtani, Bader Shirah, Ikram Ullah, Mohammad H Al-Qahtani, Angham Abdulrahman Abdulkareem, Muhammad Imran Naseer
The nonlysosomal glucosylceramidase β2 ( GBA2 ) gene encode an enzyme that catalyzes the hydrolysis of glucosylceramide to glucose and ceramide. Mutations in the GBA2 gene have been reported to cause hereditary spastic paraplegia, autosomal recessive cerebellar ataxia with spasticity, and Marinescu-Sjögren-Like Syndrome. In this study, we report the clinical features and genetic diagnosis of autosomal recessive cerebellar ataxia with spasticity due to a rare mutation in GBA2 gene in a large consanguineous Saudi family...
January 2021: Genes & Diseases
https://read.qxmd.com/read/33564117/physiotherapy-interventions-for-the-treatment-of-spasticity-in-people-with-spinal-cord-injury-a-systematic-review
#18
REVIEW
Paulo Henrique Ferreira de Araujo Barbosa, Joanne V Glinsky, Emerson Fachin-Martins, Lisa A Harvey
STUDY DESIGN: Systematic review. OBJECTIVE: To determine the effectiveness of physiotherapy interventions for the treatment of spasticity in people with spinal cord injuries. SETTING: Not applicable. METHODS: A comprehensive search was undertaken to identify all randomised controlled trials of physiotherapy interventions that included an assessor-reported (objective) or participant-reported (subjective) measure of spasticity...
February 9, 2021: Spinal Cord
https://read.qxmd.com/read/33553621/blended-phenotype-of-silver-russell-syndrome-and-spg50-caused-by-maternal-isodisomy-of-chromosome-7
#19
Marvin Ziegler, Bianca E Russell, Kathrin Eberhardt, Gregory Geisel, Angelica D'Amore, Mustafa Sahin, Harley I Kornblum, Darius Ebrahimi-Fakhari
Objective: Uniparental isodisomy can lead to blended phenotypes of imprinting disorders and autosomal recessive diseases. To determine whether a complex neurodevelopmental disorder was caused by uniparental isodisomy, a detailed clinical and molecular characterization was performed. Methods: A combination of clinical, molecular, and imaging data and functional studies in patient-derived fibroblasts. Results: We report a 4-year-old female with a blended, complex phenotype of Silver-Russell syndrome (SRS) and hereditary spastic paraplegia type 50 (SPG50) caused by total maternal isodisomy of chromosome 7 (UPiD(7)mat) and a loss-of-function variant in AP4M1 (NM_00472...
February 2021: Neurology. Genetics
https://read.qxmd.com/read/33526816/a-nepalese-family-with-an-reep2-mutation-clinical-and-genetic-study
#20
Haitian Nan, Ryusuke Takaki, Takanori Hata, Kishin Koh, Yoshihisa Takiyama
Hereditary spastic paraplegias (HSPs) are clinically and genetically heterogeneous neurodegenerative disorders characterized by progressive weakness and spasticity in the lower limbs due to pyramidal tract dysfunction. REEP2 mutations have been identified as a cause of "pure" HSP, SPG72, with both autosomal dominant and autosomal recessive inheritance. We describe a rare Nepalese family with early-onset pure-type HSP harboring a heterozygous REEP2 missense mutation (c.119T>G, p.Met40Arg). This is only the second SPG72 family with autosomal dominant inheritance...
February 1, 2021: Journal of Human Genetics
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