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Benign spastic paraplegia

Lyse Ruaud, Gillian I Rice, Christelle Cabrol, Juliette Piard, Mathieu Rodero, Lien van Eyk, Elise Boucher-Brischoux, Alain Maertens de Noordhout, Ricardo Maré, Emmanuel Scalais, Fernand Pauly, François-Guillaume Debray, William Dobyns, Carolina Uggenti, Ji Woo Park, Sun Hur, John H Livingston, Yanick J Crow, Lionel Van Maldergem
We describe progressive spastic paraparesis in two male siblings and the daughter of one of these individuals. Onset of disease occurred within the first decade, with stiffness and gait difficulties. Brisk deep tendon reflexes and extensor plantar responses were present, in the absence of intellectual disability or dermatological manifestations. Cerebral imaging identified intracranial calcification in all symptomatic family members. A marked upregulation of interferon stimulated gene (ISG) transcripts was recorded in all three affected individuals and in two clinically unaffected relatives...
May 21, 2018: Human Mutation
Shirley Yin-Yu Pang, Kay-Cheong Teo, Jacob Shujui Hsu, Richard Shek-Kwan Chang, Miaoxin Li, Pak-Chung Sham, Shu-Leong Ho
The clinical diagnosis of neurodegenerative disorders based on phenotype is difficult in heterogeneous conditions with overlapping symptoms. It does not take into account the disease etiology or the highly variable clinical course even amongst patients diagnosed with the same disorder. The advent of next generation sequencing (NGS) has allowed for a system-wide, unbiased approach to identify all gene variants in the genome simultaneously. With the plethora of new genes being identified, genetic rather than phenotype-based classification of Mendelian diseases such as spinocerebellar ataxia (SCA), hereditary spastic paraplegia (HSP) and Charcot-Marie-Tooth disease (CMT) has become widely accepted...
2017: Translational Neurodegeneration
Benjamin Roeben, Rebecca Schüle, Susanne Ruf, Benjamin Bender, Bader Alhaddad, Tanja Benkert, Thomas Meitinger, Selina Reich, Judith Böhringer, Claus-Dieter Langhans, Frédéric M Vaz, Saskia B Wortmann, Thorsten Marquardt, Tobias B Haack, Ingeborg Krägeloh-Mann, Ludger Schöls, Matthis Synofzik
OBJECTIVE: To demonstrate that mutations in the phosphatidylglycerol remodelling enzyme SERAC1 can cause juvenile-onset complicated hereditary spastic paraplegia (cHSP) clusters, thus adding SERAC1 to the increasing number of complex lipid cHSP genes. METHODS: Combined genomic and functional validation studies (whole-exome sequencing, mRNA, cDNA and protein), biomarker investigations (3-methyl-glutaconic acid, filipin staining and phosphatidylglycerols PG34:1/PG36:1), and clinical and imaging phenotyping were performed in six affected subjects from two different branches of a large consanguineous family...
January 2018: Journal of Medical Genetics
Anna Uhrová Mészárosová, Dagmar Grečmalová, Michaela Brázdilová, Nina Dvořáčková, Zdeněk Kalina, Marie Čermáková, Dagmar Vávrová, Irena Smetanová, David Staněk, Pavel Seeman
Variants in the ATL1 gene have been repeatedly described as the second most frequent cause of hereditary spastic paraplegia (HSP), a motor neuron disease manifested by progressive lower limb spasticity and weakness. Variants in ATL1 have been described mainly in patients with early onset HSP. We performed Sanger sequencing of all coding exons and adjacent intron regions of the ALT1 gene in 111 Czech patients with pure form of HSP and additional Multiplex-Ligation Probe Analysis (MLPA) testing targeting the ATL1 gene in 56 of them...
July 23, 2017: Annals of Human Genetics
Amir Jahic, Friedmar Kreuz, Pia Zacher, Jana Fiedler, Andrea Bier, Silke Reif, Manuela Rieger, Stefan Krüger, Christian Beetz, Jens Plaschke
Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous, neurodegenerative movement disorder. A total of eight KIAA0196/strumpellin variants have thus far been associated with SPG8, a rare dominant HSP. We present a novel strumpellin alteration in a small family with clinically pure HSP. We corroborated its causality by comparing it to rare benign variants at several levels, and, along this line, also re-considered previous genetic reports on SPG8. These analyses identified significant challenges in the interpretation of strumpellin alterations, and suggested that at least two of the few families claimed to suffer from SPG8 may have been genetically misdiagnosed...
December 15, 2014: Journal of the Neurological Sciences
Julia Falk, Magdalena Rohde, Mohamed M Bekhite, Sophie Neugebauer, Peter Hemmerich, Michael Kiehntopf, Thomas Deufel, Christian A Hübner, Christian Beetz
Hereditary axonopathies are frequently caused by mutations in proteins that reside in the endoplasmic reticulum (ER). Which of the many ER functions are pathologically relevant, however, remains to be determined. REEP1 is an ER protein mutated in hereditary spastic paraplegia (HSP) and hereditary motor neuropathy (HMN). We found that HSP-associated missense variants at the N-terminus of REEP1 abolish ER targeting, whereas two more central variants are either rare benign SNPs or confer pathogenicity via a different mechanism...
April 2014: Human Mutation
Katsuhiko Oguro, Hidemasa Sakai, Masato Arai, Takeyasu Igarashi
Eosinophilic granuloma (EG) is a benign, self-limiting disorder that usually involves a single bone. However, there is a growing evidence that the clinical picture of EG is protean. We report two cases with EG that showed rare presentations. Case 1: A 14-year-old girl complained of headache in the left parietal region for several days. The initial examination was normal. During the next three weeks, her headache was progressive and she noticed a tender swelling on her head. Cranial computed tomography (CT) revealed an osteolytic lesion on the left parietal bone...
April 2013: Brain & Development
Mark Braschinsky, Riin Tamm, Christian Beetz, Elena Sachez-Ferrero, Elve Raukas, Siiri-Merike Lüüs, Katrin Gross-Paju, Catherine Boillot, Federico Canzian, Andres Metspalu, Sulev Haldre
BACKGROUND: Hereditary spastic paraplegia (HSP) is a clinically and genetically heterogeneous disorder that can be an autosomal-dominant, autosomal-recessive, or X-linked disease. The most common autosomal-dominant form of the disease derives from mutations in the SPAST gene. METHODS: The aim of this study was to analyze 49 patients diagnosed with HSP from the Estonian population for sequence variants of the SPAST gene and to describe the associated phenotypes. Healthy control individuals (n = 100) with no family history of HSP were also analyzed...
2010: BMC Neurology
Afaf Faik, Saoussan Mahfoud Filali, Noufissa Lazrak, Selma El Hassani, Najia Hajjaj-Hassouni
Osteochondroma, or exostosis, is the most common of all benign bone tumors. Spinal osteochondromas are uncommon but may cause neurological compromise. We report two cases of spinal cord compression by osteochondromas. One patient was a 17-year-old man with hereditary multiple exostoses who was presented with spastic paraparesis, a sensory level at T3-T4, and a pyramidal syndrome. Vertebral exostosis was suspected by magnetic resonance imaging and confirmed by histological examination. Surgical decompression was followed by complete resolution of the neurological impairments...
March 2005: Joint, Bone, Spine: Revue du Rhumatisme
Peter Hedera, Gerald M Fenichel, Marcia Blair, Jonathan L Haines
BACKGROUND: Mutations in a novel GTPase gene SPG3A cause an autosomal dominant hereditary spastic paraplegia linked to chromosome 14q (SPG3), which accounts for approximately 10% to 15% of all autosomal dominant hereditary spastic paraplegia cases. The mutational spectrum of the SPG3A gene and the phenotype/genotype correlations have not yet been established. OBJECTIVE: To describe a kindred with an infantile onset of hereditary spastic paraplegia caused by a novel mutation in the SPG3A gene...
October 2004: Archives of Neurology
Anette Bretz, Dirk Van den Berge, Guy Storme
OBJECTIVE AND IMPORTANCE: Epidermoid cysts are benign lesions that account for 0.7% of all intraspinal tumors. Standard treatment is complete resection. The recurrence rate after surgery cannot be estimated from the scarce literature, but it has been acknowledged that, in some patients, curative surgery may be impossible and temporary relief of symptoms is the only aim. CLINICAL PRESENTATION: In 1996, a 59-year-old woman presented with a 30-year history of a spinal epidermoid cyst, for which she had previously undergone eight operations...
December 2003: Neurosurgery
Arnulf H Koeppen, Yves Robitaille
Pelizaeus-Merzbacher disease (PMD) can now be defined as an X-linked recessive leukodystrophy that is caused by a mutation in the proteolipid protein (PLP) gene on chromosome Xq22. The most common mutation is gene duplication followed in frequency by missense mutations, insertions, and deletions. The clinical spectrum ranges from severe neonatal cases to relatively benign adult forms and X-linked recessive spastic paraplegia type 2. The lack of PLP is accompanied by deficits in the other myelin proteins of the central nervous system, including myelin basic protein, myelin-associated glycoprotein, and cyclic nucleotide phosphodiesterase...
September 2002: Journal of Neuropathology and Experimental Neurology
T Siddique, P Hu, A Hentati, G Deng, W Y Hung, M G McInnis, A C Warren, J Rimmler, S Antonarakis, M A Pericak-Vance
Disorders of the motor neurons may affect both the upper and lower neurons, primarily the lower motor neurons as in the spinal muscular atrophies are primarily the upper motor neurons as in the familial spastic paraplegias. Amyotrophic lateral sclerosis is a degenerative disorder of the motor neuron that results in paralysis and wasting of voluntary muscles. Large motor neurons in the cerebral cortex, brain stem and spinal cord degenerate or are lost. Hyaline inclusions may be seen in the cytoplasm of surviving motor neurons...
0: International Journal of Neurology
M J Hilton, L Gutiérrez, L Zhang, P A Moreno, M Reddy, N Brown, Y Tan, A Hill, D E Wells
We have developed an integrated map for a 35-cM area of human chromosome 8 surrounding the Langer-Giedion syndrome deletion region. This map spans from approximately 8q22 to 8q24 and includes 10 hybrid cell intervals, 89 polymorphic STSs, 118 ESTs, and 37 known genes or inferred gene homologies. The map locations of 25 genes including osteoprotegerin, syndecan-2, and autotaxin have been refined from the general locations previously reported. In addition, the map has been used to indicate the location of nine deletions in patients with Langer-Giedion syndrome and trichorhinophalangeal syndrome type I to demonstrate the potential usefulness of the map in the analysis of these complex syndromes...
January 15, 2001: Genomics
P Coutinho, J Barros, R Zemmouri, J Guimarães, C Alves, R Chorão, E Lourenço, P Ribeiro, J L Loureiro, J V Santos, A Hamri, C Paternotte, J Hazan, M C Silva, J F Prud'homme, D Grid
BACKGROUND: Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurodegenerative disorders characterized by progressive and predominant spasticity of the lower limbs, in which dominant, recessive, and X-linked forms have been described. While autosomal dominant HSP has been extensively studied, autosomal recessive HSP is less well known and is considered a rare condition. OBJECTIVE: To analyze the clinical presentation in a large group of patients with autosomal recessive HSP from Portugal and Algeria to define homogeneous groups that could serve as a guide for future molecular studies...
August 1999: Archives of Neurology
W G Bradley
Amyotrophic lateral sclerosis (ALS), although a disease that has been well recognized for nearly 150 years, still causes problems of diagnosis and management, as there is no definitive diagnostic test, and the disease is pleomorphic. Research criteria were developed for the categorization of definite, probable, and possible ALS at the El Escorial Workshop (published in 1994). The principal features are upper and lower motor neuron signs at several levels of the neuraxis, without involvement of other neurological systems...
1995: Clinical Neuroscience
R P Bruyn, P Scheltens, J Lycklama à Nijeholt, J M de Jong
We present 2 sibs with autosomal recessive spastic paraparesis and severe amyotrophy of the distal limb muscles. Elaborate neurophysiologic studies disclosed slight to moderate slowing of motor conduction, moderate to severe reduction of motor action potentials, denervation potentials, and increased distal motor latencies. This syndrome, not having been reported since the papers by Ormerod (5) in 1904 and Holmes (6) in 1905, constitutes another rare, benign, complicated form of hereditary spastic paraparesis...
June 1993: Acta Neurologica Scandinavica
M Leone, S Baldini, G Voltolin, M Norat, E Bottacchi
INTRODUCTION: The nervous system is affected in 30% of hereditary monogenic disorders and as many as 500 single-gene disorders display major neurologic symptoms. We have studied the frequency of hereditary neurological diseases to assess their importance in daily hospital activity. Only single-gene hereditary diseases with central or peripheral nervous system involvement were considered; thus chromosomal diseases and diseases with multifactorial etiology were excluded. METHODS: We surveyed admission to in- and out-patient departments of Neurology, Pediatrics, and Dermatology of the Aosta Regional Hospital for the calendar years 1982-1991, collecting 229 cases, 95 women and 134 men...
September 1993: Minerva Medica
N Sunohara, H Tomi, J Kishibayashi, M Mukoyama
Clinical, neurophysiological and neuropathological investigations were performed on five patients from two families with autosomal dominant distal amyotrophy followed by spastic paraplegia and with a positive history in two generations of these two families. All cases in the two families had a benign clinical course, although two mothers could not walk without support at around 60 years old. Neurophysiological studies revealed normal maximum conduction velocities of peripheral sensory and motor nerves, and the central spinal sensory pathway...
November 1993: Internal Medicine
M L Paige, A S Michael, A Brodin
Osteoblastoma is an infrequent but important cause of pain in the back and neurological findings in children and young adults. Its diagnosis may be difficult and often delayed (in one series, 23% of patients had not been diagnosed after 2 years of symptoms). MRI may be useful to noninvasively image the lesion, its soft tissue and bony extent and its relationship, if any, to the spinal cord.
1991: Skeletal Radiology
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