Hereditary spastic paraplegia
... (HSP) refers to a group of familial diseases that are characterized by progressive degeneration ... Clinical progression and genetic analysis in hereditary spastic paraplegia with thin corpus callosum in spastic gait gene 11 ( ... Hereditary spastic paraplegia. Authors. Puneet Opal, MD, PhD. Puneet Opal, MD, PhD ... Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation. Eur J ...https://www.uptodate.com/contents/hereditary-spastic-paraplegia
Hereditary spastic paraplegia - Wikipedia
"Hereditary spastic paraplegia". nhs.uk. Retrieved 2018-01-28. Fink JK (2003). "The Hereditary Spastic Paraplegias". Archives of ... GeneReviews/NCBI/NIH/UW entry on Spastic Paraplegia 3A Hereditary spastic paraplegia at Curlie (based on DMOZ) GeneReviews/NCBI ... UW entry on Hereditary Spastic Paraplegia Overview Warner, Tom (January-February 2007). "Hereditary Spastic Paraplegia" (PDF). ... HSP is also known as hereditary spastic paraparesis, familial spastic paraplegia, French settlement disease, or Strumpell- ...https://en.wikipedia.org/wiki/Hereditary_spastic_paraplegia
Clinical and genetic study of hereditary spastic paraplegia in Canada | Neurology Genetics
hereditary spastic paraplegia; OR=. odds ratio; SCA=. spinocerebellar ataxia; SE=. standard error; SPRS=. Spastic Paraplegia ... Clinical and genetic study of hereditary spastic paraplegia in Canada. Nicolas Chrestian, Nicolas Dupré, Ziv Gan-Or, Anna Szuto ... Prevalence of hereditary ataxia and spastic paraplegia in southeast Norway: a population-based study. Brain 2009;132:1577-1588. ... The prevalence of hereditary spastic paraplegia and the occurrence of SPG4 mutations in Estonia. Neuroepidemiology 2009;32:89- ...http://ng.neurology.org/content/3/1/e122
Friedreich ataxia and hereditary spastic paraplegia (HSP) may be considered as mitochondrial diseases with secondary effects on ... Leber hereditary optic neuropathy LHON Thu, 09 Feb 2017 , Muscle Diseases Leber hereditary optic neuropathy (LHON) is the most ... Isolated mitochondrial myopathy in infants has mainly been associated with COX deficiency (DiMauro et al., 1980 1983 Oldfors et ... al., 1989). A fatal (DiMauro et al., 1980) and a benign reversible form (DiMauro et al., 1983) have been described. Both ...https://www.fitness-vip.com/muscle-diseases/
Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease).
Differential Diagnosis Autosomal dominant GCH-I deficiency is often misdiagnosed as hereditary spastic paraplagia or cerebral ... Dopa-responsive dystonia simulating spastic paraplegia due to tyrosine hydroxylase (TH) gene mutations. Neurology 2001;56:260 - ... Although clinical features have characteristics similar to those of autosomal dominant GCH-I deficiency, hereditary spastic ... 57 but some showed features of spastic paraplegia, which responded to L-dopa.58 Furukawa and colleagues58 recommends analysis ...https://www.docme.ru/doc/1904133/autosomal-dominant-guanosine-triphosphate-cyclohydrolase-...
High Degree of Genetic Heterogeneity for Hereditary Cerebellar Ataxias in Australia | Springer for Research & Development
... can be applied to the hereditary cerebellar ataxias (HCAs), but their exact role in the... ... SPAST mutations in Australian patients with hereditary spastic paraplegia. Intern Med J. 2012;42(12):1342-7.CrossRefPubMed ... Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. J Neurol. 2013;260(10):2516-22.CrossRef ... Ruano L, Melo C, Silva MC, Coutinho P. The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review ...https://rd.springer.com/article/10.1007%2Fs12311-018-0969-7
Australian of the Year Alan Mackay-Sim on the advantage of being 'an interested scientist'
... hereditary spastic paraplegia and diseases like Parkinson's.. A photo of the late actor Christopher Reeve is pinned on a ... the funds will be donated to the Hereditary Spastic Paraplegia Research Foundation, his charity of choice. ... Mackay-Sim with wife Lisa Peine in North Queensland in 1983.. Photo: Courtesy of Alan Mackay-Sim. Perhaps no Australian of the ...https://www.theage.com.au/lifestyle/australian-of-the-year-alan-mackaysim-on-the-advantage-of-being-an-interested-scientist-20170404-gvdcqe.html
Defective FA2H leads to a novel form of neurodegeneration with brain iron accumulation (NBIA).
... with a hereditary spastic paraplegia (HSP) phenotype (SPG35).20 It is noteworthy that a leukodystrophy, hereditary spastic ... Mutation of FA2H underlies a complicated form of hereditary spastic paraplegia (SPG35). Hum Mutat 2010;31:E1251-1260. 21. ... Our findings, when combined with earlier studies implicating FA2H mutations in both hereditary spastic paraplegia and ... because FA2H mutations have been identified in both a form of hereditary spastic paraplegia (SPG35) and a progressive familial ...https://www.docme.ru/doc/1922125/defective-fa2h-leads-to-a-novel-form-of-neurodegeneration..
GroES - Wikipedia
"Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60". Am ... Rolfe BE, Morton H, Cavanagh AC, Gardiner RA (Mar 1983). "Detection of an early pregnancy factor-like substance in sera of ...https://en.wikipedia.org/wiki/GroES
Toothpicks, Serendipity and the Emergence of the Escherichia coli DnaK (Hsp70) and GroEL (Hsp60) Chaperone Machines | Genetics
Hansen, J. J., A. Durr, I. Cournu-Rebeix, C. Georgopoulos, D. Ang et al., 2002 Hereditary spastic paraplegia SPG13 is ... machine has also been shown to play an important role in the development of a particular form of human spastic paraplegia (H ... Kochan, J., and H. Murialdo, 1983 Early intermediates in bacteriophage lambda prohead assembly. II. Identification of ... 1983) later showed that the GroEL machine proteins indeed play a primary role in the proper assembly of the λB dodecameric ...http://www.genetics.org/content/174/4/1699
The Arm Pendulum in Gait | Springer for Research & Development
Full body gait analysis may improve diagnostic discrimination between hereditary spastic paraplegia and spastic diplegia: a ... Riad J, Coleman S, Miller F (2007) Arm posturing during walking in children with spastic hemiplegic cerebral palsy. J Pediatr ... a comprehensive assessment in spastic hemiplegic cerebral palsy. Gait Posture 33:48-53CrossRefGoogle Scholar ... Jackson KM, Joseph J, Wyard SJ (1983) The upper limbs during human walking. Part 2. Function. Electromyogr Clin Neurophysiol 23 ...https://rd.springer.com/referenceworkentry/10.1007/978-3-319-14418-4_56
Dr. Joseph D'Alton, MD - Framingham, MA - Neurology | Healthgrades.com
Neuropathy, Distal Hereditary Motor, Type VIIa. - Sensory Neuropathy With Spastic Paraplegia. - Neuropathy, Hereditary Motor ...https://www.healthgrades.com/physician/dr-joseph-dalton-24g8d
Abundant kif21b is associated with accelerated progression in neurodegenerative diseases | Acta Neuropathologica Communications...
Wang L, Brown A: A hereditary spastic paraplegia mutation in kinesin-1A/KIF5A disrupts neurofilament transport. Mol ... kif5a mutations are associated with the development of hereditary spastic paraplegia (SPG10), a neurodegenerative disease. At ... Kurtzke JF: Rating neurologic impairment in multiple sclerosis: an expanded disability status scale (EDSS). Neurology 1983, 33 ...https://actaneurocomms.biomedcentral.com/articles/10.1186/s40478-014-0144-4
Kudos - helping increase the reach and impact of research
Dementia in SPG4 hereditary spastic paraplegia: Clinical, genetic, and neuropathologic evidence. Published in:Neurology. ... REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31. Published in:Brain. ... Further evidence of dementia in SPG4-linked autosomal dominant hereditary spastic paraplegia. Published in:Neurology. ... Autosomal dominant hereditary spastic paraparesis with cognitive loss linked to chromosome 2p. Published in:Brain. Publication ...https://www.growkudos.com/profiles/54700
Dr. Kenneth Olive, MD - Johnson City, TN - Geriatric Medicine | Healthgrades.com
Sensory Neuropathy With Spastic Paraplegia. - Spinal Bulbar Motor Neuropathy. - Spinocerebellar Ataxia With Axonal Neuropathy, ... Neuropathy, Distal Hereditary Motor. - Neuropathy, Distal Hereditary Motor, Jerash Type. - Neuropathy, Distal Hereditary Motor ...https://www.healthgrades.com/physician/dr-kenneth-olive-39mvv
Neuropathy target esterase - Wikipedia
... mutations in NTE that substantially reduce its catalytic activity cause a rare form of hereditary spastic paraplegia (SPG39), ... Mutations in this gene result in autosomal recessive spastic paraplegia, and the protein is the target for neurodegeneration ... Gurba PE, Richardson RJ (1983). "Partial characterization of neurotoxic esterase of human placenta". Toxicol. Lett. 15 (1): 13- ...https://en.wikipedia.org/wiki/Neuropathy_target_esterase
Recent Mathematical Models of Axonal Transport | SpringerLink
L. Wang, A. Brown, A hereditary spastic paraplegia mutation in kinesin-1A/KIF5A disrupts neurofilament transport. Mol. ... H.H. Goebel, P. Vogel, M. Gabriel, Neuropathologic and morphometric studies in hereditary motor and sensory neuropathy type II ...https://link.springer.com/chapter/10.1007/978-3-319-62627-7_12
List of cutaneous conditions - Wikipedia
Palmoplantar keratoderma and spastic paraplegia (Charcot-Marie-Tooth disease with palmoplantar keratoderma and nail dystrophy) ... hereditary painful callosities, hereditary painful callosity syndrome, keratosis follicularis, keratosis palmoplantaris ... Hemodialysis-associated amyloidosis Hepatoerythropoietic porphyria Hereditary coproporphyria Hereditary gelsolin amyloidosis ... CS1 maint: Multiple names: authors list (link) Fietta P (2004). "Autoinflammatory diseases: the hereditary periodic fever ...https://en.wikipedia.org/wiki/List_of_cutaneous_conditions
Mitochondrial optic neuropathies - Wikipedia
"Classification of the hereditary ataxias and paraplegias". Lancet. 1 (8334): 1151-5. doi:10.1016/S0140-6736(83)92879-9. PMID ... depending on whether additional clinical features are present besides spastic paraplegia, such as optic atrophy, ataxia, ... Oostra, R J; Bolhuis, P A; Wijburg, F A; Zorn-Ende, G; Bleeker-Wagemakers, E M (1994). "Leber's hereditary optic neuropathy: ... Cullom, Mary Ellen; Heher, Katrinka L.; Miller, Neil R.; Savino, Peter J.; Johns, Donald R. (1993). "Leber's Hereditary Optic ...https://en.wikipedia.org/wiki/Mitochondrial_optic_neuropathies
The evolutionary and ecological role of heat shock proteins - Sørensen - 2003 - Ecology Letters - Wiley Online Library
Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60. Am. ... Ropp, M., Courgeon, A.M., Calvayrac, R. & Bestbelpomme, M. (1983). The possible role of the superoxide ion in the induction of ... David, J.R., Allemand, R., Van Herrewege, J. & Cohet, Y. (1983). Ecophysiology: abiotic factors. In: The Genetics and Biology ... 1983; Cossins & Bowler 1987; Hoffmann & Parsons 1991; Lee & Denlinger 1991; Loeschcke et al. 1994; Hoffmann & Parsons 1997b; ...http://onlinelibrary.wiley.com/doi/10.1046/j.1461-0248.2003.00528.x/full?globalMessage=0
Major facilitator superfamily - Wikipedia
... causes autosomal-dominant spastic paraplegia (SPG42)". American Journal of Human Genetics. 83 (6): 752-9. doi:10.1016/j.ajhg. ... "Identification of an intestinal folate transporter and the molecular basis for hereditary folate malabsorption". Cell. 127 (5 ... Foster DL, Boublik M, Kaback HR (January 1983). "Structure of the lac carrier protein of Escherichia coli". The Journal of ...https://en.wikipedia.org/wiki/Major_facilitator_superfamily
METHODS AND COMPOUNDS FOR REGULATING APOPTOSIS - Patent application
... hereditary spastic paraplegia, hydrocephalus, pseudotumor cerebri and other conditions involving CSF dysfunction, Gaucher's ... 1983 Tetrahedron Lett 24:4401-4404 (--C(OH)CH2--); and Hruby, 1982 Life Sci 31:189-199 (--CH2--S--); each of which is ... 267-357, Marcel Dekker, Inc., New York (1983) which is incorporated herein by reference. Replacement of an amido linkage ... 1983, In: Chemistry and Biochemistry of Amino Acids, Peptides, and Proteins, B. Weinstein, eds., Marcel Dekker, New York, p. ...http://www.patentsencyclopedia.com/app/20090118135
Awards and Lectures
Interaction of Spastin and Atlastin in Hereditary Spastic Paraplegia Suggests a Common Pathway for Axonal Maintenance ... Deciphering Hereditary Presenile Dementias: Neuropathology at the Crossroads of Neuropsychiatry and Molecular Genetics ...https://aanp.memberclicks.net/awards-and-lectures
Living with a Rare Disease: stories from patients and families
Hereditary Sensory and Autonomic Neuropathies (HSAN). * Hereditary Spastic Paraplegia. * Idiopathic Pulmonary Fibrosis ... Leber Hereditary Optic Neuropathy (LHON). The challenges of a dramatically under-diagnosed rare disease ... In 1983 Liz Blows was diagnosed with diabetes. She adjusted to a regime of dietary control and regular injections and got on ...https://www.eurordis.org/living-with-a-rare-disease
X-linked: X-linked Hydrocephalus (L1 syndrome)
X-linked complicated hereditary spastic paraplegia type 1. *X-linked corpus callosum agenesis ... Because this disorder involves spasticity of the lower limbs, L1 syndrome is sometimes referred to as spastic paraplegia type 1 ... I have one brother that is unaffected, and one brother that died when he was 9 months, back in 1983 when technology was not ... I have one brother that is unaffected, and one brother that died when he was 9 months, back in 1983 when technology was not ...http://www.xlinked1.com/p/x-linked-hydrocepha.html