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    Louis Ptacek, MD

    TitleProfessor
    SchoolUCSF School of Medicine
    DepartmentNeurology
    Address1550 4th Street, Bldg 19B
    San Francisco CA 94158
    Phone415-502-5614

       Biography 
       Awards and Honors
      Brandies University2006Bauer Foundation Distinguished Professor
      American Academy of Neurology2006Fellow
      American Society for Clinical Investigation2000Elected
      American Neurological Association1997Derek Denny-Brown Neurological Scholar Award
      University of Utah1996Golden Anniversary Prize for Distinguished Clinical Investigation
      American Neurological Association1992Travel Award
      American Neurological Association1992Presidents Award

       Overview 
       Overview
      Episodic phenomena (epilepsy, migraine, and cardiac arrhythmias) are among the most common disorders afflicting humans. Early in his career, Ptácek began studying patients with rare Mendelian muscle disorders (periodic paralysis) and proposed these as a model of more common episodic disorders. In 1990, he began systematically characterizing genes causing familial forms of periodic paralysis. This series of landmark discoveries identified mutant ion channel genes and laid the groundwork for the field now called the "channelopathies." He proposed that all the work in channelopathies of skeletal muscle would be model for episodic disorders of heart and brain. Subsequently, his group and others have identified homologous genes that (when mutated) cause cardiac arrhythmias, epilepsy, and migraine. He has gone from describing new syndromes to cloning causative genes, to biological study in vitro and in vivo (animal models).

      More recently, Ptácek led the team that characterized the first Mendelian variant in human circadian function. He and his colleague Ying-Hui Fu have gone on to clone and characterize numerous genes causing this phenotype. This work has led to novel insights into human circadian biology.

      Ptácek is an HHMI Investigator, and an associate editor of The Journal of Clinical Investigation and Neurogenetics. He is a member of the American Academy of Arts and Sciences, the Institute of Medicine, and the National Academy of Science.


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       Bibliographic 
       Publications
      Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Researchers can login to make corrections and additions, or contact us for help.
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      1. Costa MJ, So AY, Kaasik K, Krueger KC, Pillsbury ML, Fu YH, Ptacek LJ, Yamamoto KR, Feldman BJ. Circadian rhythm gene period 3 is an inhibitor of the adipocyte cell fate. J Biol Chem. 2011 Mar 18; 286(11):9063-70.
        View in: PubMed
      2. Zhang L, Jones CR, Ptacek LJ, Fu YH. The genetics of the human circadian clock. Adv Genet. 2011; 74:231-47.
        View in: PubMed
      3. Rochette J, Roll P, Fu YH, Lemoing AG, Royer B, Roubertie A, Berquin P, Motte J, Wong SW, Hunter A, Robaglia-Schlupp A, Ptacek LJ, Szepetowski P. Novel familial cases of ICCA (infantile convulsions with paroxysmal choreoathetosis) syndrome. Epileptic Disord. 2010 Sep; 12(3):199-204.
        View in: PubMed
      4. Ptácek LJ. In memoriam: Louis John Ptácek, Sr, MD (1929-2006). J Child Neurol. 2009 Apr; 24(4):519-20.
        View in: PubMed
      5. Friedman A, Zakrzewska-Pniewska B, Domitrz I, Lee HY, Ptacek L, Kwiecinski H. Paroxysmal non-kinesigenic dyskinesia caused by the mutation of MR-1 in a large Polish kindred. Eur Neurol. 2009; 61(1):39-41.
        View in: PubMed
      6. Young JE, Gouw L, Propp S, Sopher BL, Taylor J, Lin A, Hermel E, Logvinova A, Chen SF, Chen S, Bredesen DE, Truant R, Ptacek LJ, La Spada AR, Ellerby LM. Proteolytic cleavage of ataxin-7 by caspase-7 modulates cellular toxicity and transcriptional dysregulation. J Biol Chem. 2007 Oct 12; 282(41):30150-60.
        View in: PubMed
      7. Carr JA, van der Walt PE, Nakayama J, Fu YH, Corfield V, Brink P, Ptacek L. FAME 3: a novel form of progressive myoclonus and epilepsy. Neurology. 2007 Apr 24; 68(17):1382-9.
        View in: PubMed
      8. Liquori CL, Berg MJ, Squitieri F, Leedom TP, Ptacek L, Johnson EW, Marchuk DA. Deletions in CCM2 are a common cause of cerebral cavernous malformations. Am J Hum Genet. 2007 Jan; 80(1):69-75.
        View in: PubMed
      9. Slavotinek AM, Moshrefi A, Davis R, Leeth E, Schaeffer GB, Burchard GE, Shaw GM, James B, Ptacek L, Pennacchio LA. Array comparative genomic hybridization in patients with congenital diaphragmatic hernia: mapping of four CDH-critical regions and sequencing of candidate genes at 15q26.1-15q26.2. Eur J Hum Genet. 2006 Sep; 14(9):999-1008.
        View in: PubMed
      10. Liquori CL, Berg MJ, Squitieri F, Ottenbacher M, Sorlie M, Leedom TP, Cannella M, Maglione V, Ptacek L, Johnson EW, Marchuk DA. Low frequency of PDCD10 mutations in a panel of CCM3 probands: potential for a fourth CCM locus. Hum Mutat. 2006 Jan; 27(1):118.
        View in: PubMed
      11. Maschke M, Oehlert G, Xie TD, Perlman S, Subramony SH, Kumar N, Ptacek LJ, Gomez CM. Clinical feature profile of spinocerebellar ataxia type 1-8 predicts genetically defined subtypes. Mov Disord. 2005 Nov; 20(11):1405-12.
        View in: PubMed
      12. Venance SL, Cannon SC, Fialho D, Fontaine B, Hanna MG, Ptacek LJ, Tristani-Firouzi M, Tawil R, Griggs RC. The primary periodic paralyses: diagnosis, pathogenesis and treatment. Brain. 2006 Jan; 129(Pt 1):8-17.
        View in: PubMed
      13. Zhang L, Benson DW, Tristani-Firouzi M, Ptacek LJ, Tawil R, Schwartz PJ, George AL, Horie M, Andelfinger G, Snow GL, Fu YH, Ackerman MJ, Vincent GM. Electrocardiographic features in Andersen-Tawil syndrome patients with KCNJ2 mutations: characteristic T-U-wave patterns predict the KCNJ2 genotype. Circulation. 2005 May 31; 111(21):2720-6.
        View in: PubMed
      14. Johnson KR, Zheng QY, Weston MD, Ptacek LJ, Noben-Trauth K. The Mass1frings mutation underlies early onset hearing impairment in BUB/BnJ mice, a model for the auditory pathology of Usher syndrome IIC. Genomics. 2005 May; 85(5):582-90.
        View in: PubMed
      15. Klein BD, Fu YH, Ptacek LJ, White HS. Auditory deficits associated with the frings mgr1 (mass1) mutation in mice. Dev Neurosci. 2005; 27(5):321-32.
        View in: PubMed
      16. Bruno MK, Hallett M, Gwinn-Hardy K, Sorensen B, Considine E, Tucker S, Lynch DR, Mathews KD, Swoboda KJ, Harris J, Soong BW, Ashizawa T, Jankovic J, Renner D, Fu YH, Ptacek LJ. Clinical evaluation of idiopathic paroxysmal kinesigenic dyskinesia: new diagnostic criteria. Neurology. 2004 Dec 28; 63(12):2280-7.
        View in: PubMed
      17. Klein BD, Fu YH, Ptacek LJ, White HS. c-Fos immunohistochemical mapping of the audiogenic seizure network and tonotopic neuronal hyperexcitability in the inferior colliculus of the Frings mouse. Epilepsy Res. 2004 Nov; 62(1):13-25.
        View in: PubMed
      18. Swoboda KJ, Kanavakis E, Xaidara A, Johnson JE, Leppert MF, Schlesinger-Massart MB, Ptacek LJ, Silver K, Youroukos S. Alternating hemiplegia of childhood or familial hemiplegic migraine? A novel ATP1A2 mutation. Ann Neurol. 2004 Jun; 55(6):884-7.
        View in: PubMed
      19. Bruno MK, Ravina B, Garraux G, Hallett M, Ptacek L, Singleton A, Johnson J, Singleton A, Hanson M, Considine E, Gwinn-Hardy K. Exercise-induced dystonia as a preceding symptom of familial Parkinson's disease. Mov Disord. 2004 Feb; 19(2):228-30.
        View in: PubMed
      20. Donaldson MR, Yoon G, Fu YH, Ptacek LJ. Andersen-Tawil syndrome: a model of clinical variability, pleiotropy, and genetic heterogeneity. Ann Med. 2004; 36 Suppl 1:92-7.
        View in: PubMed
      21. Liquori CL, Berg MJ, Siegel AM, Huang E, Zawistowski JS, Stoffer T, Verlaan D, Balogun F, Hughes L, Leedom TP, Plummer NW, Cannella M, Maglione V, Squitieri F, Johnson EW, Rouleau GA, Ptacek L, Marchuk DA. Mutations in a gene encoding a novel protein containing a phosphotyrosine-binding domain cause type 2 cerebral cavernous malformations. Am J Hum Genet. 2003 Dec; 73(6):1459-64.
        View in: PubMed
      22. Libby RT, Monckton DG, Fu YH, Martinez RA, McAbney JP, Lau R, Einum DD, Nichol K, Ware CB, Ptacek LJ, Pearson CE, La Spada AR. Genomic context drives SCA7 CAG repeat instability, while expressed SCA7 cDNAs are intergenerationally and somatically stable in transgenic mice. Hum Mol Genet. 2003 Jan 1; 12(1):41-50.
        View in: PubMed
      23. Einum DD, Clark AM, Townsend JJ, Ptacek LJ, Fu YH. A novel central nervous system-enriched spinocerebellar ataxia type 7 gene product. Arch Neurol. 2003 Jan; 60(1):97-103.
        View in: PubMed
      24. Tristani-Firouzi M, Jensen JL, Donaldson MR, Sansone V, Meola G, Hahn A, Bendahhou S, Kwiecinski H, Fidzianska A, Plaster N, Fu YH, Ptacek LJ, Tawil R. Functional and clinical characterization of KCNJ2 mutations associated with LQT7 (Andersen syndrome). J Clin Invest. 2002 Aug; 110(3):381-8.
        View in: PubMed
      25. Garden GA, Libby RT, Fu YH, Kinoshita Y, Huang J, Possin DE, Smith AC, Martinez RA, Fine GC, Grote SK, Ware CB, Einum DD, Morrison RS, Ptacek LJ, Sopher BL, La Spada AR. Polyglutamine-expanded ataxin-7 promotes non-cell-autonomous purkinje cell degeneration and displays proteolytic cleavage in ataxic transgenic mice. J Neurosci. 2002 Jun 15; 22(12):4897-905.
        View in: PubMed
      26. Ptacek L. Channelopathies: episodic disorders of the nervous system. Novartis Found Symp. 2002; 241:87-104; discussion 104-8, 226-32.
        View in: PubMed
      27. Abbott GW, Butler MH, Bendahhou S, Dalakas MC, Ptacek LJ, Goldstein SA. MiRP2 forms potassium channels in skeletal muscle with Kv3.4 and is associated with periodic paralysis. Cell. 2001 Jan 26; 104(2):217-31.
        View in: PubMed
      28. Ptacek LJ, Fu YH. Channelopathies: episodic disorders of the nervous system. Epilepsia. 2001; 42 Suppl 5:35-43.
        View in: PubMed
      29. Waxman SG, Ptacek LJ. Chronic fatigue syndrome and channelopathies. Med Hypotheses. 2000 Nov; 55(5):457.
        View in: PubMed
      30. Tawil R, McDermott MP, Brown R, Shapiro BC, Ptacek LJ, McManis PG, Dalakas MC, Spector SA, Mendell JR, Hahn AF, Griggs RC. Randomized trials of dichlorphenamide in the periodic paralyses. Working Group on Periodic Paralysis. Ann Neurol. 2000 Jan; 47(1):46-53.
        View in: PubMed
      31. Viscomi CM, Ptacek LJ, Dudley D. Anesthetic management of familial hypokalemic periodic paralysis during parturition. Anesth Analg. 1999 May; 88(5):1081-2.
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      32. Craig HD, Günel M, Cepeda O, Johnson EW, Ptacek L, Steinberg GK, Ogilvy CS, Berg MJ, Crawford SC, Scott RM, Steichen-Gersdorf E, Sabroe R, Kennedy CT, Mettler G, Beis MJ, Fryer A, Awad IA, Lifton RP. Multilocus linkage identifies two new loci for a mendelian form of stroke, cerebral cavernous malformation, at 7p15-13 and 3q25.2-27. Hum Mol Genet. 1998 Nov; 7(12):1851-8.
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      33. Einum DD, Zhang J, Arneson PJ, Menon AG, Ptacek LJ. Genomic structure of human anion exchanger 3 and its potential role in hereditary neurological disease. Neurogenetics. 1998 Aug; 1(4):289-92.
        View in: PubMed
      34. Adair JC, Hart BL, Kornfeld M, Graham GD, Swanda RM, Ptacek LJ, Davis LE. Autosomal dominant cerebral arteriopathy: neuropsychiatric syndrome in a family. Neuropsychiatry Neuropsychol Behav Neurol. 1998 Jan; 11(1):31-9.
        View in: PubMed
      35. Gardner K, Barmada MM, Ptacek LJ, Hoffman EP. A new locus for hemiplegic migraine maps to chromosome 1q31. Neurology. 1997 Nov; 49(5):1231-8.
        View in: PubMed
      36. Lindblad K, Savontaus ML, Stevanin G, Holmberg M, Digre K, Zander C, Ehrsson H, David G, Benomar A, Nikoskelainen E, Trottier Y, Holmgren G, Ptacek LJ, Anttinen A, Brice A, Schalling M. An expanded CAG repeat sequence in spinocerebellar ataxia type 7. Genome Res. 1996 Oct; 6(10):965-71.
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      37. Meola G, Sansone V, Radice S, Skradski S, Ptacek L. A family with an unusual myotonic and myopathic phenotype and no CTG expansion (proximal myotonic myopathy syndrome): a challenge for future molecular studies. Neuromuscul Disord. 1996 May; 6(3):143-50.
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      38. Wang J, Dubowitz V, Lehmann-Horn F, Ricker K, Ptacek L, Hoffman EP. In vivo sodium channel structure/function studies: consecutive Arg1448 changes to Cys, His, and Pro at the extracellular surface of IVS4. Soc Gen Physiol Ser. 1995; 50:77-88.
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      39. Sansone V, Rotondo G, Ptacek LJ, Meola G. Mutation in the S4 segment of the adult skeletal sodium channel gene in an Italian paramyotonia congenita (PC) family. Ital J Neurol Sci. 1994 Dec; 15(9):473-80.
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      40. Gouw LG, Digre KB, Harris CP, Haines JH, Ptacek LJ. Autosomal dominant cerebellar ataxia with retinal degeneration: clinical, neuropathologic, and genetic analysis of a large kindred. Neurology. 1994 Aug; 44(8):1441-7.
        View in: PubMed
      41. Jackson CE, Barohn RJ, Ptacek LJ. Paramyotonia congenita: abnormal short exercise test, and improvement after mexiletine therapy. Muscle Nerve. 1994 Jul; 17(7):763-8.
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      42. Tawil R, Ptacek LJ, Pavlakis SG, DeVivo DC, Penn AS, Ozdemir C, Griggs RC. Andersen's syndrome: potassium-sensitive periodic paralysis, ventricular ectopy, and dysmorphic features. Ann Neurol. 1994 Mar; 35(3):326-30.
        View in: PubMed
      43. Ptacek LJ, Gouw L, Kwiecinski H, McManis P, Mendell JR, Barohn RJ, George AL, Barchi RL, Robertson M, Leppert MF. Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol. 1993 Mar; 33(3):300-7.
        View in: PubMed
      44. Ptacek LJ, Johnson KJ, Griggs RC. Genetics and physiology of the myotonic muscle disorders. N Engl J Med. 1993 Feb 18; 328(7):482-9.
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      45. Ptacek LJ, Ziter FA, Roberts JW, Leppert MF. Evidence of genetic heterogeneity among the nondystrophic myotonias. Neurology. 1992 May; 42(5):1046-8.
        View in: PubMed
      46. Ptacek LJ, Tawil R, Griggs RC, Storvick D, Leppert M. Linkage of atypical myotonia congenita to a sodium channel locus. Neurology. 1992 Feb; 42(2):431-3.
        View in: PubMed
      47. Ptacek LJ, Trimmer JS, Agnew WS, Roberts JW, Petajan JH, Leppert M. Paramyotonia congenita and hyperkalemic periodic paralysis map to the same sodium-channel gene locus. Am J Hum Genet. 1991 Oct; 49(4):851-4.
        View in: PubMed
      48. Ptacek LJ, Tyler F, Trimmer JS, Agnew WS, Leppert M. Analysis in a large hyperkalemic periodic paralysis pedigree supports tight linkage to a sodium channel locus. Am J Hum Genet. 1991 Aug; 49(2):378-82.
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      49. Jacobson DM, Warner JJ, Choucair AK, Ptacek LJ. Trochlear nerve palsy following minor head trauma. A sign of structural disorder. J Clin Neuroophthalmol. 1988 Dec; 8(4):263-8.
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      50. Robertson LD, Swaiman KF, Ptacek LJ. Fetal anticonvulsant drug exposure: a population based study. Neurotoxicology. 1986; 7(2):413-9.
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      51. Hansen RL, Marx JJ, Ptacek LJ, Roberts RC. Immunological studies on an aberrant form of ataxia telangiectasia. Am J Dis Child. 1977 May; 131(5):518-21.
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      52. Forster FM, Ptacek LJ, Peterson WG. Auditory clicks in extinction of stroboscope-induced seizures. Epilepsia. 1965 Sep; 6(3):217-25.
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      53. FORSTER FM, PTACEK LJ, PETERSON WG, CHUN RW, BENGZON AR, CAMPOS GB. STROBOSCOPIC-INDUCED SEIZURE DISCHARGES. MODIFICATION BY EXTINCTION TECHNIQUES. Arch Neurol. 1964 Dec; 11:603-8.
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      54. Forster FM, Ptacek LJ, Peterson WG, Chun RW, Campos GB. Stroboscopic induced seizures altered by extinction techniques. Trans Am Neurol Assoc. 1964; 89:136-9.
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      55. GERRITSEN T, LEMLI L, PTACEK LJ, WAISMAN HA. THE PRESENCE OF LACTULOSE IN THE URINE OF INFANTS WITH LACTOSURIA. Pediatrics. 1963 Dec; 32:1033-8.
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      56. PTACEK LJ, OPITZ JM, SMITH DW, GERRITSEN T, WAISMAN HA. THE CORNELIA DE LANGE SYNDROME. J Pediatr. 1963 Nov; 63:1000-20.
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