Page 240 - Read Online
P. 240

Brooks et al.                                                                                                                                                          Neurological manifestations in Fabry disease

               of cerebral  hyperperfusion  in  Fabry disease.  J  Neuroimaging   34.  Le Bars D, Dickenson AH, Besson JM. Diffuse noxious inhibitory
               2001;11:303-7.                                    controls (DNIC). I. Effects on dorsal horn convergent neurones in the
           16.  Crutchfield KE, Patronas NJ, Dambrosia JM, Frei KP, Banerjee TK,   rat. Pain 1979;6:283-304.
               Barton NW, Schiffmann R. Quantitative analysis of cerebral vascular   35.  Dickenson  AH,  Mathews  EA,  Suzuki  R.  Central  nervous  system
               disease in patients with Fabry disease. Neurology 1998;50:1746-9.  mechanisms of pain in peripheral neuropathy. In: Hansson PT, Fields
           17.  Moore DF, Ye F, Schiffmann R, Butman JA. Increased signal intensity   HL, RG Hill, Marchettini P, editors. Neuropathic pain: pathophysiology
               in the pulvinar on T1-weighted images: a pathognomonic sign of MR   and treatment. Seattle: IASP Press; 2001. p. 85-106.
               imaging Fabry disease. AJNR Am J Neuroradiol 2003;24:1096-101.  36.  Sato  J,  Perl  ER. Adrenergic  excitation  of  cutaneous  pain  receptors
           18.  Hilz MJ, Kolodny EH, Brys M, Stemper B, Haendl T, Marthol H. Reduced   induced by peripheral nerve injury. Science 1991;251:1608-10.
               cerebral  blood  flow  velocity  and  impaired  cerebral  autoregulation  in   37.  Birklein  F,  Schmelz  M,  Schifter  S,  Weber  M.  The  important  role
               patients with Fabry disease. J Neurol 2004;251:564-70.  of  neuropeptides  in  complex  regional  pain  syndrome.  Neurology
           19.  Moore  DF, Altarescu  G,  Barker  WC,  Patronas  NJ,  Herscovitch  P,   2001;57:2179-84.
               Schiffmann R. White matter lesions in Fabry disease Occur in ‘prior’   38.  Hilz MJ, Stemper B, Kolodny EH. Lower limb cold exposure induces
               selectively hypometabolic and hypoperfusion brain regions. Brain Res   pain and Prolonged small fiber dysfunction in Fabry Patients. Pain
               Bull 2003;62:231-40.                              2000;84:361-5.
           20.  Saip  S,  Uluduz  D,  Erkol  G.  Fabry  disease  mimicking  multiple   39.  Amir  R,  Michaelis  M,  Devor  M.  Membrane  potential  oscillations
               sclerosis. Clin Neurol Neurosurg 2007;109:361-3.  in  dorsal  root  ganglion  neurons:  role  in  normal  electrogenesis  and
           21.  Invernizzi P, Bonometti MA, Turri E, Benedetti MD, Salviati A. A case   neuropathic pain. J Neurosci 1999;19:8589-96.
               of Fabry disease with central nervous system (CNS) demyelinating   40.  Dib-Hajj SD, Fjell J, Cummins TR, Zheng Z, Fried K, LaMotte R,
               lesions: a double trouble? Mult Scler 2008;14:1003-6.  Black JA, Waxman SG. Plasticity of sodium channel expression in
           22.  Polman CH, Reingold SC, Banwell B, Clanet M, Cohen JA, Filippi   DRG neurons in the chronic constriction injury model of neuropathic
               M, Fujihara K, Havrdova E, Hutchinson M, Kappos L, Lublin FD,   pain. Pain 1999;83:591-600.
               Montalban  X,  O’Connor  P,  Sandberg-Wollheim  M,  Thompson AJ,   41.  Tal  M,  Wall  PD,  Devor  M.  Myelinated  afferent  fiber  types  that
               Waubant  E,  Weinshenker  B,  Wolinsky  JS.  Diagnostic  criteria  for   become spontaneously active and mechanosensitive following nerve
               multiple  sclerosis:  2010  revisions  to  the  McDonald  criteria.  Ann   transection in the rat. Brain Res 1999;824:218-23.
               Neurol 2011;69:292-302.                        42.  Luciano CA, Russell JW, Banerjee TK, Quirk JM, Scott LJ, Dambrosia
           23.  Fazekas F, Enzinger C, Schmidt R, Grittner U, Giese AK, Hennerici   JM,  Barton  NW,  Schiffmann  R.  Physiological  characterization  of
               MG, Huber R, Jungehulsing GJ, Kaps M, Kessler C, Martus P, Putaala   neuropathy in Fabry’s disease. Muscle Nerve 2002;26:622-9.
               J,  Ropele  S, Tanislav  C, Tatlisumak T, Thijs V,  von  Sarnowski  B,   43.  Deutsch  M,  Marthol  H,  Stemper  B,  Brys  M,  Haendl  T,  Hilz  MJ.
               Norrving B, Rolfs A; SIFAP 1 Investigators. Brain magnetic resonance   Small  fiber  dysfunction  predominates  in  Fabry  neuropathy.  J Clin
               imaging findings fail to suspect Fabry disease in young patients with   Neurophysiol 2002;19:575-86.
               an acute cerebrovascular event. Stroke 2015;46:1548-53.  44.  Dyck PJ, O’Brien PC, Kosanke JL, Gillen DA, Karnes JL. The 4,
           24.  Tuttolomondo A, Pecoraro R, Simonetta I, Miceli S, Pinto A, Licata   2,  and  1  stepping  algorithm  for  quick  and  accurate  estimation  of
               G. Anderson-Fabry disease: a multiorgan disease. Curr Pharm Des   cutaneous sensation threshold. Neurology 1993;43:1508-12.
               2013;19:5974-96.                               45.  Dyck PJ, Zimmerman I, Gillen DA, Johnson D, Karnes JL, O’Brien
           25.  Laney DA, Fernhoff PM. Diagnosis of Fabry disease via analysis of   PC. Cool, warm, and heat-pain detection thresholds: testing methods
               family history. J Genet Couns 2008;17:79-83.      and  inferences about  anatomic  distribution  of receptors.  Neurology
           26.  Wei  EP,  Kontos  HA,  Beckman  JS.  Mechanisms  of  cerebral   1993;43:1500-8.
               vasodilation by superoxide, hydrogen peroxide, and peroxynitrite. Am   46.  Maag R, Binder A, Maier C, Scherens A, Toelle T, Treede RD, Baron
               J Physiol 1996;271:H1262-6.                       R. Detection of the characteristic painful neuropathy in Fabry disease:
           27.  Sakurai Y, Kojima H, Shiwa M, Ohashi T, Eto Y, Moriyama H. The   a pilot study. Pain Med 2008;9:1217-23.
               hearing status in 12 female and 15 male Japanese Fabry patients. Auris   47.  Banikazemi  M,  Bultas  J,  Waldek  S,  Wilcox  WR,  Whitley  CB,
               Nasus Larynx 2009;36:627-32.                      McDonald  M,  Finkel  R,  Packman  S,  Bichet  DG,  Warnock  DG,
           28.  Mendez  MF,  Stanley  TM,  Medel  NM,  Li  Z,  Tedesco  DT.  The   Desnick RJ; Fabry Disease Clinical Trial Study Group. Agalsidase-
               vascular dementia of Fabry’s disease. Dement Geriatr Cogn Disord   beta  therapy  for advanced  Fabry disease:  a randomized  trial.  Ann
               1997;8:252-7.                                     Intern Med 2007;146:77-86.
           29.  Liston EH, Levine MD, Philippart M. Psychosis in Fabry disease and   48.  Germain DP, Charrow J, Desnick RJ, Guffon N, Kempf J, Lachmann
               treatment with phenoxybenzamine. Arch Gen Psychiatry 1973;29:402-3.  RH,  Lemay  R,  Linthorst  GE,  Packman  S,  Scott  CR,  Waldek  S,
           30.  Grewal RP. Psychiatric disorders in Patients with Fabry’s disease. Int   Warnock DG, Weinreb NJ, Wilcox WR. Ten-year outcome of enzyme
               J Psychiatry Med 1993;23:307-12.                  replacement  therapy with agalsidase beta in patients with Fabry
           31.  Eng CM, Fletcher J, Wilcox WR, Waldek S, Scott CR, Sillence DO,   disease. J Med Genet 2015;52:353-8.
               Breunig F, Charrow J, Germain DP, Nicholls K, Banikazemi M. Fabry   49.  Fellgiebel A, Gartenschläger M, Wildberger K, Scheurich A, Desnick
               disease: baseline medical characteristics of a cohort of 1765 males and   RJ,  Sims  K.  Enzyme  replacement  therapy  stabilized  white  matter
               females in the Fabry Registry. J Inherit Metab Dis 2007;30:184-92.  lesion progression in Fabry disease. Cerebrovasc Dis 2014;38:448-56.
           32.  Mehta  A,  Ricci  R,  Widmer  U,  Dehout  F,  Garcia  de  Lorenzo  A,   50.  Tsuboi K, Yamamoto H, Somura F, Goto H. Successful management of
               Kampmann  C,  Linhart A,  Sunder-Plassmann  G,  Ries  M,  Beck  M.   enzyme replacement therapy in related fabry disease patients with severe
               Fabry disease defined: baseline clinical manifestations of 366 patients   adverse events by switching from agalsidase Beta (fabrazyme(®)) to
               in the Fabry Outcome Survey. Eur J Clin Invest 2004;34:236-42.  agalsidase alfa (replagal (®)). JIMD Rep 2015;15:105-11.
           33.  MacDermot  J,  MacDermot  KD.  Neuropathic  pain  in  Anderson-  51.  Politei J, Schenone AB, Cabrera G, Heguilen R, Szlago M. Fabry disease
               Fabry disease: pathology and therapeutic options. Eur J Pharmacol   and enzyme replacement therapy in classic patients with same mutation:
               2001;429:121-5.                                   different formulations - different outcome? Clin Genet 2016;89:88-92.




                           Neuroimmunology and Neuroinflammation ¦ Volume 3 ¦ October 28, 2016            231
   235   236   237   238   239   240   241   242   243   244   245