نتایج جستجو برای: spastic paraplegia

تعداد نتایج: 11676  

Journal: :Brain : a journal of neurology 1996
A Dürr C S Davoine C Paternotte J von Fellenberg S Cogilinicean P Coutinho C Lamy S Bourgeois J F Prud'homme C Penet J L Mas J M Burgunder J Hazan J Weissenbach A Brice B Fontaine

We report the clinical features of 12 families with autosomal dominant spastic paraplegia (ADSP) linked to the SPG4 locus on chromosome 2p, the major locus for this disorder that accounts for approximately 40% of the families. Among 93 gene carriers, 32 (34%) were unaware of symptoms but were clinically affected. Haplotype reconstruction showed that 90% of the asymptomatic gene carriers present...

Journal: :Brain : a journal of neurology 2018
Cecilia Marelli Foudil Lamari Dominique Rainteau Alexandre Lafourcade Guillaume Banneau Lydie Humbert Marie-Lorraine Monin Elodie Petit Rabab Debs Giovanni Castelnovo Elisabeth Ollagnon Julie Lavie Julie Pilliod Isabelle Coupry Patrick J Babin Claire Guissart Imen Benyounes Urielle Ullmann Gaetan Lesca Christel Thauvin-Robinet Pierre Labauge Sylvie Odent Claire Ewenczyk Claude Wolf Giovanni Stevanin David Hajage Alexandra Durr Cyril Goizet Fanny Mochel

The hereditary spastic paraplegias are an expanding and heterogeneous group of disorders characterized by spasticity in the lower limbs. Plasma biomarkers are needed to guide the genetic testing of spastic paraplegia. Spastic paraplegia type 5 (SPG5) is an autosomal recessive spastic paraplegia due to mutations in CYP7B1, which encodes a cytochrome P450 7α-hydroxylase implicated in cholesterol ...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1994
W Schady C M Smith

A large kinship is reported with dominantly inherited spastic paraplegia starting in the first decade of life; its clinical evolution was indistinguishable from that of "pure" hereditary spastic paraplegia (HSP). However, all patients studied had electrophysiological evidence of a predominantly sensory polyneuropathy, which was confirmed on nerve biopsy in three. The histological findings indic...

Journal: :Journal of the neurological sciences 2014
Yingying Luo Bin Jiao Junling Wang Juan Du Xinxiang Yan Kun Xia Beisha Tang Lu Shen

BACKGROUND Recently, a hexanucleotide repeat expansion in the C9orf72 gene has been identified to cause frontotemporal dementia, amyotrophic lateral sclerosis families and many other neurodegenerative diseases. Owing to the overlapping phenotypes among HSP, frontotemporal dementia and amyotrophic lateral sclerosis we hypothesized that C9orf72 expansions might be a genetic risk factor or modifie...

Journal: :Journal of neurology, neurosurgery, and psychiatry 1991
W Schady J P Dick A Sheard S Crampton

Central motor conduction (CMC) studies were carried out in 25 patients with hereditary spastic paraplegia (HSP). Responses evoked in the lower limbs by transcranial magnetic stimulation of the motor cortex were bilaterally absent in 33% of the patients and, when recordable, were delayed in 75% of cases. Responses in the upper limbs were mostly normal except for those from the five members of on...

Journal: :Neurology 2010
S T de Bot B P C van de Warrenburg H P H Kremer M A A P Willemsen

S.T. de Bot, MD B.P.C. van de Warrenburg, MD, PhD H.P.H. Kremer, MD, PhD M.A.A.P. Willemsen, MD, PhD Because the medical literature on hereditary spastic paraplegia (HSP) is dominated by descriptions of adult case series, there is less emphasis on the genetic evaluation in suspected pediatric cases of HSP. The differential diagnosis of progressive spastic paraplegia strongly depends on the age ...

2002
C. Nobile B. Hinzmann P. Scannapieco R. Siebert R. Zimbello J. Perez-Tur T. Sarafidou N. K. Moschonas L. French P. Deloukas A. Ciccodicola S. Gesk C. Lo Nigro M. Seri B. Schlegelberger A. Rosenthal G. Valle A. Lopez de Munain C. A. Tassinari R. Michelucci

We describe the structure, genomic organization, and some transcription features of a human brain-specific gene previously localized to the genomic region involved in temporal lobe epilepsy and spastic paraplegia on chromosome 10q24. The gene, which consists of six exons disseminated over 16 kb of genomic DNA, is highly homologous to the porcine tmp83.5 gene and encodes a putative transmembrane...

Journal: :Human molecular genetics 1997
E Fransen G Van Camp L Vits P J Willems

The neuronal cell adhesion molecule L1 (L1CAM) is a transmembrane glycoprotein belonging to the immunoglobulin superfamily and is essential in the development of the nervous system. It is mainly expressed on neurons and Schwann cells, and plays a key role in axon outgrowth and pathfinding through interactions with various extracellular ligands and intracellular second messenger systems. Mutatio...

Journal: :Journal of medical genetics 2002
I Yabe H Sasaki K Tashiro T Matsuura T Takegami T Satoh

Hereditary spastic paraplegia (HSP) is a cluster of genetically heterogeneous disorders that has spastic paraplegia as the central feature. Autosomal dominant HSP (AD-HSP) is also genetically heterogeneous and seven loci have been identified so far on chromosomes 14q (SPG3), 2p (SPG4), 15q (SPG6), 8q (SPG8), 12q (SPG10), 19q (SPG12), and 2q (SPG13). Among them, the SPG4 gene named spastin (GenB...

2013
Ariel Y. Deutch

4136 The Journal of Clinical Investigation http://www.jci.org Volume 123 Number 10 October 2013 reveals REEP1-dependent ER shaping. J Clin Invest. 2013;123(10):4273–4282. 12. Friedman JR, Lackner LL, West M, DiBenedetto JR, Nunnari J, Voeltz GK. ER tubules mark sites of mitochondrial division. Science. 2011;334(6054):358–362. 13. Allen Institute for Brain Science. Allen Mouse Brain Atlas. AIBS ...

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