*  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
*  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
*  Muscle Diseases
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/
*  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
*  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..
*  Cervical Arthritis / Cervical Spondylotic Myelopathy / Cervical Steno… - English
Hereditary spastic paraplegia Intrinsic neoplasia (tumors of spinal cord parenchyma) ,/li,,/ul,,ul,,li,Multiple sclerosis ,/li ... Spinal Cord 1997 ,/li,,/ul,,ul,,li,CSM is the most common cause of nontraumatic spastic paraparesis and quadriparesis. ,/li,,/ ... Gait stiff or spastic gait ,/li,,/ul,,ul,,li,Sensory abnormalities variable pattern Loss of vibratory sense or proprioception ... but not accompanied by either sensory loss or spastic quadriparesis. ,/li,,/ul,,ul,,li,Ono K, Ebara S, Fuji T: Myelopathy hand ...
  https://www.slideshare.net/Beverlyspine/csm-final-for-website-green
*  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
*  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
*  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
*  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
*  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
*  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
*  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
*  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
*  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
*  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
*  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. [0153]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
*  Parkinson's disease: Microglial/macrophage-induced immunoexcitotoxicity as a central mechanism of neurodegeneration - Surgical...
Mitochondrial involvement in Parkinson's disease, Huntington's disease, hereditary spastic paraplegia and Friedreich's ataxia. ... 1983. 219: 979-80. 132. Langston JW, Forno LS, Tetrud J, Reeves AG, Kaplan JA, Karluk D. Evidence of active nerve cell ... 1983. 258: 11828-33. 142. Li Z, Zheng Z, Ruan J, Li Z, Tzeng CM. Chronic inflammation links cancer and Parkinson's disease. ...
  http://surgicalneurologyint.com/surgicalint-articles/parkinsons-disease-microglialmacrophage-induced-immunoexcitotoxicity-as-a-central-mechanism-of-neurodegeneration/
*  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
*  COMPOUNDS FOR RHO KINASE INHIBITION AND FOR IMPROVING LEARNING AND MEMORY - Patent application
... familial spastic paraplegia, spinomuscular atrophy, ALS and variants thereof, dentatorubral atrophy, olivo-pontocerebellar ... hereditary ataxias, hereditary metabolic disorders of the CNS). [0063] In the cardiovascular system ROCK has a prominent ... 1983); Budson, A. E., Price, B. H. Encyclopedia of Life Sciences (Macmillan, Nature Publishing Group, London, 2001); Budson, A ...
  http://www.patentsencyclopedia.com/app/20110294789
*  Cafl frequency-english.xls
... a type of bone inflammation marked by enlargement and pain degeneration of spinal cord leading to spastic paraplegia. See also ... Use 880, 720, and 1550 for 10 min, others for 5 min disease of the hereditary internal ear/disease Ovarian cyst Ovarian ... Sciatica 1 Sciaticor schias Scleroderma v Sclerosis lateral degeneration of spinal cord resulting in spastic paraplegia ... Also see Kidney freqs Hypertension spastic Hyperthyroid Hypochondrium upper abdomen Hypophyseal disturbances a chronic form of ...
  http://pdfdrug.com/m/mdwave.eu1.html
*  Leg symptoms and Tardive dyskinesia - Symptom Checker - check medical symptoms at RightDiagnosis
Neuropathy sensory spastic paraplegia. 1760. Neuropathy, Hereditary Sensory and Autonomic Type I. 1761. Neuropathy, Hereditary ... Spastic paraplegia 2, X-linked. 2363. Spastic paraplegia 23. 2364. Spastic paraplegia 24. 2365. Spastic paraplegia 25, ... Spastic paraplegia 14, autosomal recessive. 2359. Spastic paraplegia 16, X-linked. 2360. Spastic paraplegia 17. 2361. Spastic ... Spastic paraplegia type 1, X-linked. 2377. Spastic paraplegia type 5A, recessive. 2378. Spastic paraplegia type 5B, recessive. ...
  http://symptoms.rightdiagnosis.com/cosymptoms/leg-symptoms/tardive-dyskinesia-sall.htm
*  Faculty Directory › UConn Health
... results in disease-specific axonal defects in human pluripotent stem cell-based models of hereditary spastic paraplegia. Denton ... Shanina, N A; Kuznetsov, S A; Rodionov, V I; Gel'fand, V I; Rozenblat, V A Doklady Akademii nauk SSSR 1983 Jan;270(5):1249-53 ...
  http://facultydirectory.uchc.edu/profile?profileId=5093