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Hereditary spastic paraparesis

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https://www.readbyqxmd.com/read/29243459/adrenomyeloneuropathy-due-to-mutation-in-the-abcd1-gene-as-underlying-factor-in-spastic-paraparesis
#1
Emil Ylikallio, Elisa Rahikkala, Riikka Keski-Filppula, Mari Auranen, Henna Tyynismaa
We present a Finnish family in which adrenomyeloneuropathy (AMN) caused by the mutation in the ABCD1 gene was revealed as the cause of spastic paraparesis. . Two patients had hypoadrenalism, which is in some cases some associated with the disease . AMN is a hereditary disease manifested both in men and women. but owing to the location of the gene in the X chromosome the symptoms are usually more severe in male patients. . Diagnoses was trucked down with gene-panel sequencing and confirmed through detection of an elevated level of very long-chain fatty acids in the serum of the patients...
2017: Duodecim; Lääketieteellinen Aikakauskirja
https://www.readbyqxmd.com/read/29241713/effects-of-superficial-heating-and-insulation-on-walking-speed-in-people-with-hereditary-and-spontaneous-spastic-paraparesis-a-randomised-crossover-study
#2
Amanda L Denton, Alan D Hough, Jennifer A Freeman, Jonathan F Marsden
OBJECTIVES: Cooling of the lower limb in people with Hereditary and Spontaneous Spastic Paraparesis (pwHSSP) has been shown to affect walking speed and neuromuscular impairments. The investigation of practical strategies which may help to alleviate these problems is important. The potential of superficial heat to improve walking speed has not been explored in pwHSSP. Primary objective was to explore whether the application of superficial heat (hot packs) to lower limbs in pwHSSP improves walking speed...
December 11, 2017: Annals of Physical and Rehabilitation Medicine
https://www.readbyqxmd.com/read/29057857/case-series-of-autosomal-recessive-hereditary-spastic-paraparesis-with-novel-mutation-in-spg-7-gene
#3
Shakya Bhattacharjee, Nicholas Beauchamp, Brian E Murray, Timothy Lynch
Autosomal recessive hereditary spastic paraparesis is rare.We present 4 patients with slowly progressive predominantly lower limb spasticity and ataxia. Only one patient had family history of ataxia but without any underlying diagnosis. All of them proved negative for the mutation of Spinocerebelalr ataxia genes SCA 1,2,3 and 6. All had mutation in the SPG 7 gene suggestive of autosomal recessive hereditary spastic paraparesis. One of the heterozygous mutatnts showed a novel c1617delC ,p(Val540fs) frameshift mutation in exon 12 of the SPG 7 gene...
October 2017: Neurosciences: the Official Journal of the Pan Arab Union of Neurological Sciences
https://www.readbyqxmd.com/read/29021354/trmt5-mutations-are-associated-with-features-of-complex-hereditary-spastic-paraparesis
#4
Mark A Tarnopolsky, Lauren Brady, Martine Tetreault
No abstract text is available yet for this article.
October 11, 2017: Neurology
https://www.readbyqxmd.com/read/28933964/identification-of-novel-spg11-mutations-in-a-cohort-of-chinese-families-with-hereditary-spastic-paraplegia
#5
Juan Du, Ya-Cen Hu, Bei-Sha Tang, Hong Jiang, Lu Shen
Hereditary spastic paraplegia (HSP) is a group of clinically and genetically heterogeneous neurological diseases. To date, studies about Chinese ARHSP have been small and limited to single case. To fill this gap, we have scanned the whole exons of KIAA1840, ZFYVE26, SPG7 and CYP7B1 genes in a group of 36 unrelated ARHSP families, which is the first study conducted to investigate the mutation frequency of these ARHSP types in China. Finally, SPG11 mutations are found in 33.33% (12/36) of ARHSP patients in our study, and no mutation was identified in SPG15, SPG5 or SPG7 genes...
September 21, 2017: International Journal of Neuroscience
https://www.readbyqxmd.com/read/28174188/cervical-spine-arteriovenous-fistula-associated-with-hereditary-haemorrhagic-telangiectasia
#6
Iain John McGurgan, Roisin Lonergan, Ronan Killeen, Christopher McGuigan
Reported is a case of a man aged 55 years who presented with progressive spastic paraparesis. Examination demonstrated multiple cutaneous telangiectases. Subsequent development of upper limb weakness, acute urinary retention and eventual respiratory compromise resulted in the requirement for intensive care unit admission and mechanical ventilation. MRI spine revealed diffuse T2 hyperintensity in the cervical cord with enhancement and cord expansion. Immunomodulatory therapy for a presumed diagnosis of transverse myelitis yielded no response, so a vascular aetiology was suspected...
February 7, 2017: BMJ Case Reports
https://www.readbyqxmd.com/read/28137957/loss-of-function-mutations-in-the-atp13a2-park9-gene-cause-complicated-hereditary-spastic-paraplegia-spg78
#7
Alejandro Estrada-Cuzcano, Shaun Martin, Teodora Chamova, Matthis Synofzik, Dagmar Timmann, Tine Holemans, Albena Andreeva, Jennifer Reichbauer, Riet De Rycke, Dae-In Chang, Sarah van Veen, Jean Samuel, Ludger Schöls, Thorsten Pöppel, Danny Mollerup Sørensen, Bob Asselbergh, Christine Klein, Stephan Zuchner, Albena Jordanova, Peter Vangheluwe, Ivailo Tournev, Rebecca Schüle
Hereditary spastic paraplegias are heterogeneous neurodegenerative disorders characterized by progressive spasticity of the lower limbs due to degeneration of the corticospinal motor neurons. In a Bulgarian family with three siblings affected by complicated hereditary spastic paraplegia, we performed whole exome sequencing and homozygosity mapping and identified a homozygous p.Thr512Ile (c.1535C > T) mutation in ATP13A2. Molecular defects in this gene have been causally associated with Kufor-Rakeb syndrome (#606693), an autosomal recessive form of juvenile-onset parkinsonism, and neuronal ceroid lipofuscinosis (#606693), a neurodegenerative disorder characterized by the intracellular accumulation of autofluorescent lipopigments...
February 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/28052917/a-mutation-of-ept1-selenoi-underlies-a-new-disorder-of-kennedy-pathway-phospholipid-biosynthesis
#8
Mustafa Y Ahmed, Aisha Al-Khayat, Fathiya Al-Murshedi, Amna Al-Futaisi, Barry A Chioza, J Pedro Fernandez-Murray, Jay E Self, Claire G Salter, Gaurav V Harlalka, Lettie E Rawlins, Sana Al-Zuhaibi, Faisal Al-Azri, Fatma Al-Rashdi, Amaury Cazenave-Gassiot, Markus R Wenk, Fatema Al-Salmi, Michael A Patton, David L Silver, Emma L Baple, Christopher R McMaster, Andrew H Crosby
Mutations in genes involved in lipid metabolism have increasingly been associated with various subtypes of hereditary spastic paraplegia, a highly heterogeneous group of neurodegenerative motor neuron disorders characterized by spastic paraparesis. Here, we report an unusual autosomal recessive neurodegenerative condition, best classified as a complicated form of hereditary spastic paraplegia, associated with mutation in the ethanolaminephosphotransferase 1 (EPT1) gene (now known as SELENOI), responsible for the final step in Kennedy pathway forming phosphatidylethanolamine from CDP-ethanolamine...
March 1, 2017: Brain: a Journal of Neurology
https://www.readbyqxmd.com/read/27900367/whole-genome-sequencing-of-two-probands-with-hereditary-spastic-paraplegia-reveals-novel-splice-donor-region-variant-and-known-pathogenic-variant-in-spg11
#9
Allen Chi-Shing Yu, Anne Yin-Yan Chan, Wing Chi Au, Yun Shen, Ting Fung Chan, Ho-Yin Edwin Chan
Hereditary spastic paraplegias (HSPs) are a group of heterogeneous neurodegenerative disorders, which are often presented with overlapping phenotypes such as progressive paraparesis and spasticity. To assist the diagnosis of HSP subtypes, next-generation sequencing is often used to provide supporting evidence. In this study, we report the case of two probands from the same family with HSP symptoms, including bilateral lower limb weakness, unsteady gait, cognitive decline, dysarthria, and slurring of speech since the age of 14...
November 2016: Cold Spring Harbor Molecular Case Studies
https://www.readbyqxmd.com/read/27732632/gait-patterns-in-patients-with-hereditary-spastic-paraparesis
#10
Mariano Serrao, Martina Rinaldi, Alberto Ranavolo, Francesco Lacquaniti, Giovanni Martino, Luca Leonardi, Carmela Conte, Tiwana Varrecchia, Francesco Draicchio, Gianluca Coppola, Carlo Casali, Francesco Pierelli
BACKGROUND: Spastic gait is a key feature in patients with hereditary spastic paraparesis, but the gait characterization and the relationship between the gait impairment and clinical characteristics have not been investigated. OBJECTIVES: To describe the gait patterns in hereditary spastic paraparesis and to identify subgroups of patients according to specific kinematic features of walking. METHODS: We evaluated fifty patients by computerized gait analysis and compared them to healthy participants...
2016: PloS One
https://www.readbyqxmd.com/read/27638887/reep1-null-mice-reveal-a-converging-role-for-hereditary-spastic-paraplegia-proteins-in-lipid-droplet-regulation
#11
Benoît Renvoisé, Brianna Malone, Melanie Falgairolle, Jeeva Munasinghe, Julia Stadler, Caroline Sibilla, Seong H Park, Craig Blackstone
Hereditary spastic paraplegias (HSPs; SPG1-76 plus others) are length-dependent disorders affecting long corticospinal axons, and the most common autosomal dominant forms are caused by mutations in genes that encode the spastin (SPG4), atlastin-1 (SPG3A) and REEP1 (SPG31) proteins. These proteins bind one another and shape the tubular endoplasmic reticulum (ER) network throughout cells. They also are involved in lipid droplet formation, enlargement, or both in cells, though mechanisms remain unclear. Here we have identified evidence of partial lipoatrophy in Reep1 null mice in addition to prominent spastic paraparesis...
December 1, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27606838/the-effects-of-dalfampridine-on-hereditary-spastic-paraparesis
#12
Ugur Uygunoglu, Aysegul Gunduz, Melih Tutuncu, Mehmet Ali Akalin, Sabahattin Saip, Aksel Siva
No abstract text is available yet for this article.
2016: European Neurology
https://www.readbyqxmd.com/read/27606357/complicated-spastic-paraplegia-in-patients-with-ap5z1-mutations-spg48
#13
Jennifer Hirst, Marianna Madeo, Katrien Smets, James R Edgar, Ludger Schols, Jun Li, Anna Yarrow, Tine Deconinck, Jonathan Baets, Elisabeth Van Aken, Jan De Bleecker, Manuel B Datiles, Ricardo H Roda, Joachim Liepert, Stephan Züchner, Caterina Mariotti, Peter De Jonghe, Craig Blackstone, Michael C Kruer
OBJECTIVE: Biallelic mutations in the AP5Z1 gene encoding the AP-5 ζ subunit have been described in a small number of patients with hereditary spastic paraplegia (HSP) (SPG48); we sought to define genotype-phenotype correlations in patients with homozygous or compound heterozygous sequence variants predicted to be deleterious. METHODS: We performed clinical, radiologic, and pathologic studies in 6 patients with biallelic mutations in AP5Z1. RESULTS: In 4 of the 6 patients, there was complete loss of AP-5 ζ protein...
October 2016: Neurology. Genetics
https://www.readbyqxmd.com/read/27552392/what-s-in-the-literature
#14
Nicholas J Silvestri, Gil I Wolfe, David Lacomis, Mark B Bromberg
The Guillain-Barré syndrome (GBS) is one of the few neuropathies well known to the general public, in part because of its association with swine flu vaccinations in 1976. GBS has again reached the general public with its possible association with Zika virus. The virus, borne by infected Aedes aegypti mosquitos, is being linked to birth defects when pregnant women are bitten and infected. There are early reports also linking GBS to Zika infection, which could expose a wider range of infected people to the neuropathy...
September 2016: Journal of Clinical Neuromuscular Disease
https://www.readbyqxmd.com/read/27539578/novel-homozygous-missense-mutation-in-spg20-gene-results-in-troyer-syndrome-associated-with-mitochondrial-cytochrome-c-oxidase-deficiency
#15
Ronen Spiegel, Devorah Soiferman, Avraham Shaag, Stavit Shalev, Orly Elpeleg, Ann Saada
Troyer syndrome is an autosomal recessive form of hereditary spastic paraplegia (HSP) caused by deleterious mutations in the SPG20 gene. Although the disease is associated with a loss of function mechanism of spartin, the protein encoded by SPG20, the precise pathogenesis is yet to be elucidated. Recent data indicated an important role for spartin in both mitochondrial maintenance and function. Here we report a child presenting with progressive spastic paraparesis, generalized muscle weakness, dysarthria, impaired growth, and severe isolated decrease in muscle cytochrome c oxidase (COX) activity...
2017: JIMD Reports
https://www.readbyqxmd.com/read/27444738/identification-of-mutations-in-ap4s1-spg52-through-next-generation-sequencing-in-three-families
#16
A Tessa, R Battini, A Rubegni, E Storti, C Marini, D Galatolo, R Pasquariello, F M Santorelli
BACKGROUND AND PURPOSE: The term hereditary spastic paraplegia (HSP) covers a spectrum of genetically heterogeneous disorders in which lower limb spasticity is the common clinical feature. Many patients with childhood-onset HSP are mistakenly diagnosed with cerebral palsy (CP). METHODS: A group of as yet molecularly undiagnosed HSP patients were analyzed using SpastoPlex, a customized target re-sequencing panel able to investigate the coding regions of 72 genes linked to HSP, spastic ataxias or related motor diseases...
October 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
https://www.readbyqxmd.com/read/27412159/health-survey-of-adults-with-hereditary-spastic-paraparesis-compared-to-population-study-controls
#17
Krister W Fjermestad, Øivind J Kanavin, Eva E Næss, Lise B Hoxmark, Grete Hummelvoll
BACKGROUND: Hereditary spastic paraparesis (HSP) is a rare neurodegenerative condition characterized by slowly progressive spastic weakness of the lower limbs and urinary sphincter dysfunction. Complex HSP involves additional neurologic symptoms and signs like ataxia, extra pyramidal signs, polyneuropathy, and cognitive decline. Little is known about the disease burden for adults with HSP beyond the described core symptoms. METHODS: A cross-sectional survey of 108 adults aged 30 years and older (Mage = 57...
July 13, 2016: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/27312078/selective-dorsal-rhizotomy-for-hereditary-spastic-paraparesis-in-children
#18
Julia Sharma, Christopher Bonfield, Paul Steinbok
PURPOSE: The aim of this study was to determine the outcomes for children who underwent selective dorsal rhizotomy (SDR) for the treatment of spasticity related to spinal pathology. METHODS: We performed a retrospective review of all cases of SDR at our institution over the last 30 years and identified patients in whom spasticity was attributed to spinal rather than cerebral pathology. We gathered demographic information and recorded functional status and spasticity scores pre-operatively and over long-term follow-up...
August 2016: Child's Nervous System: ChNS: Official Journal of the International Society for Pediatric Neurosurgery
https://www.readbyqxmd.com/read/27271711/hereditary-spastic-paraplegia-clinical-and-genetic-hallmarks
#19
REVIEW
Paulo Victor Sgobbi de Souza, Wladimir Bocca Vieira de Rezende Pinto, Gabriel Novaes de Rezende Batistella, Thiago Bortholin, Acary Souza Bulle Oliveira
Hereditary spastic paraplegia comprises a wide and heterogeneous group of inherited neurodegenerative and neurodevelopmental disorders resulting from primary retrograde dysfunction of the long descending fibers of the corticospinal tract. Although spastic paraparesis and urinary dysfunction represent the most common clinical presentation, a complex group of different neurological and systemic compromise has been recognized recently and a growing number of new genetic subtypes were described in the last decade...
April 2017: Cerebellum
https://www.readbyqxmd.com/read/27262978/superficial-warming-and-cooling-of-the-leg-affects-walking-speed-and-neuromuscular-impairments-in-people-with-spastic-paraparesis
#20
A Denton, L Bunn, A Hough, G Bugmann, J Marsden
BACKGROUND: People with hereditary and spontaneous spastic paraparesis (HSSP) report that their legs are stiffer and walking is slower when their legs are cold. OBJECTIVES: This study explored the effects of prolonged superficial cooling and warming of the lower leg on walking speed and local measures of neuromuscular impairments. METHODS: This was a randomised pre- and post-intervention study of 22 HSSP participants and 19 matched healthy controls...
December 2016: Annals of Physical and Rehabilitation Medicine
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