Skip to main content Accessibility help
×
Hostname: page-component-788cddb947-jbkpb Total loading time: 0 Render date: 2024-10-12T13:36:35.432Z Has data issue: false hasContentIssue false

F

from Section 1 - Diagnostics

Published online by Cambridge University Press:  30 May 2019

Alan B. Ettinger
Affiliation:
Safe Passage Diagnostics, New York
Deborah M. Weisbrot
Affiliation:
State University of New York, Stony Brook
Casey E. Gallimore
Affiliation:
University of Wisconsin
Get access
Type
Chapter
Information
Publisher: Cambridge University Press
Print publication year: 2019

Access options

Get access to the full version of this content by using one of the access options below. (Log in options will check for institutional or personal access. Content may require purchase if you do not have access.)

References

Cole, AL, Lee, PJ, Hughes, DA, et al. Depression in adults with Fabry disease: a common and under-diagnosed problem. J Inherit Metab Dis. 2007; 30: 943–51.CrossRefGoogle ScholarPubMed
Desnick, RJ, Ioannou, YA, Eng, CM. Alpha-galactosidase A deficiency: Fabry disease. In Scriver, CR, Beaudet, AL, Sly, WS, et al., eds. The metabolic and molecular bases of inherited diseases. 8th ed. New York: McGraw-Hill; 2001. pp. 3733–74.Google Scholar
Eng, CM, Fletcher, J, Wilcox, WR, et al. Fabry disease: baseline medical characteristics of a cohort of 1765 males and females in the Fabry Registry. J Inherit Metab Dis. 2007; 30: 184–92.CrossRefGoogle ScholarPubMed
Mehta, A, Hughes, DA. Fabry disease. Aug 5, 2002 [Updated Oct 17, 2013]. In Pagon, RA, Adam, MP, Ardinger, HH, et al., eds. GeneReviews® [Internet]. Seattle, WA: University of Washington; 1993–2016. Available from www.ncbi.nlm.nih.gov/books/NBK1292/. Accessed Aug 6, 2018.Google Scholar
Mehta, A, Ricci, R, Widmer, U, et al. Fabry disease defined: baseline clinical manifestations of 366 patients in the Fabry Outcome Survey. Eur J Clin Invest. 2004; 34: 236–42.Google Scholar
Sadek, J, Shellhaas, R, Camfield, CS, Camfield, PR, Burley, J. Psychiatric findings in four female carriers of Fabry disease. Psychiatr Genet. 2004; 14: 199201.CrossRefGoogle ScholarPubMed
Caviness, JN, Brown, P. Myoclonus: current concepts and recent advances. Lancet Neurol. 2004; 3(10): 598607.Google Scholar
Espay, AJ, Chen, R. Myoclonus. Continuum (Minneap Minn). 2013; 19: 1264–86.Google ScholarPubMed
Factor, S, Lang, A, Weiner, W, eds. Drug induced movement disorders. 2nd ed. Malden, MA: Wiley-Blackwell; 2008.Google Scholar
Fahn, S, Jankovic, J. Myoclonus phenomenology, etiology, physiology, and treatment. Principles and Practice of Movement Disorders. 2nd ed. Philadelphia: Saunders; 2011. p. 447.Google Scholar
Gálvez-Jiménez, N, Tuite, P, eds. Uncommon causes of movement disorders. Cambridge, UK: Cambridge University Press; 2011.CrossRefGoogle Scholar
Jau-Shin, L, Valls-SolÃ, J, Toro, C, Hallett, M. Facial action myoclonus in patients with olivopontocerebellar atrophy. Mov Disord. 2004; 9(2): 223–6.Google Scholar
Marcos-Salazar, S, Prim-Espada, MP, De Diego-Sastre, JI, et al. [Facial nerve tumours]. Rev Neurol. 2004; 39(12): 1120–2.Google ScholarPubMed
Shirazi, MA, Leonetti, JP, Marzo, SJ, Anderson, DE. Surgical management of facial neuromas: lessons learned. Otol Neurotol. 2007; 28(7): 958–63.Google Scholar
Szudek, J. Intratemporal tumors of the facial nerve. Updated March 11, 2016. Medscape. https://emedicine.medscape.com/article/846352-overview. Accessed Aug 15, 2016.Google Scholar
Ronthal, M. Bell's palsy: Pathogenesis, clinical features, and diagnosis in adults. UpToDate. Feb 2015. Waltham, MA. Available from www.uptodate.com/home.Google Scholar
Ronthal, M. Bell's palsy: Prognosis and treatment in adults. UpTodate. Dec 2015. Waltham, MA. Availabe from http://uptodate.com/homeGoogle Scholar
Mayersak, R. Facial trauma in adults. UpToDate. Dec 2015. Waltham, MA. Available from http://uptodate.com/homeGoogle Scholar
Fahn, S, Jankovic, J. Tics and Tourette syndrome. In Principles and practice of movement disorders. 2nd ed. Philadelphia: Saunders; 2011. pp. 350–79.Google Scholar
Martino, D, Espay, AJ, Fasano, A, Morgante, F. Tics. In Disorders of movement: a guide to diagnosis and treatment. New York: Springer; 2016. pp. 97118.Google Scholar
Martino, D, Mink, JW. Tic disorders. CONTINUUM (Minneap Minn). 2013; 19: 1287–311.Google Scholar
Münchau, A. Tics. In Brandt, VC, ed. Neuropsychiatric symptoms of movement disorders. New York: Springer International; 2015. pp. 223–59.Google Scholar
Orrell, RW. Facioscapulohumeral dystrophy and scapuloperoneal syndromes. Handb Clin Neurol. 2011; 101: 167–80.Google Scholar
American Psychiatric Association. Diagnostic and statistical manual of mental disorders: DSM-5. 5th ed. Washington, DC: American Psychiatric Association; 2013.Google Scholar
McEwen, DR. Recognizing Munchausen's syndrome. AORN J. 1998; 67: 206–11.Google Scholar
Reich, P, Gottfried, LA. Factitious disorders in a teaching hospital. Ann Intern Med. 1983; 99(2): 240–7.Google Scholar
American Psychiatric Association. Diagnostic and statistical manual of mental disorders: DSM-5. 5th ed. Washington, DC: American Psychiatric Association; 2013.Google Scholar
Krahn, LE, Li, H, O'Connor, MK. Patients who strive to be ill: factitious disorder with physical symptoms. Am J Psychiatry. 2003; 160(6): 1163–8.Google Scholar
Sutherland, AJ, Rodin, GM. Factitious disorders in a general hospital setting: clinical features and a review of the literature. Psychosomatics. 1990; 31(4): 392–9.CrossRefGoogle Scholar
Biffi, A, Greenberg, SM. Cerebral amyloid angiopathy: a systematic review. J Clin Neurol. 2011; 7(1): 19.CrossRefGoogle ScholarPubMed
Caplan, LR. Factor V Leiden: clinical manifestations and diagnosis. In Bogousslavsky, K, ed. Uncommon causes of stroke. 2nd ed. Cambridge, UK: Cambridge University Press; 2008. Chapter 6.CrossRefGoogle Scholar
Caplan, LR, ed. Uncommon causes of stroke. 2nd ed. Cambridge, UK: Cambridge University Press; 2010.Google Scholar
Black, DF. Sporadic and familial hemiplegic migraine: diagnosis and treatment. Semin Neurol. 2006; 26: 208–16.Google Scholar
Bradshaw, P, Parsons, M. Hemiplegic migraine, a clinical study. Q J Med. 1965; 34: 6586.Google Scholar
Thomsen, LL, Eriksen, MK, Roemer, SF, et al. An epidemiological survey of hemiplegic migraine. Cephalalgia. 2002; 22: 361–75.CrossRefGoogle Scholar
Whitty, CWM. Familial hemiplegic migraine. J Neurol Neurosurg Psychiatry. 1953; 16: 172–7.Google Scholar
Keller, A, et al. Mutations in the gene encoding PDGF-B cause brain calcifications in humans and mice. Nat Genet. 2013; 45(9): 1077–82.Google Scholar
Manyam, BV, et al. Bilateral striopallidodentate calcinosis: clinical characteristics of patients seen in a registry. Mov Disord. 2001; 16(2): 258–64.Google Scholar
Nicolas, G, et al. Mutation of the PDGFRB gene as a cause of idiopathic basal ganglia calcification. Neurology. 2013; 80(2): 181–7.Google Scholar
Nicolas, G, et al. Phenotypic spectrum of probable and genetically-confirmed idiopathic basal ganglia calcification. Brain. 2013; 136(11): 3395–407.Google Scholar
Wang, C, Li, Y, Shi, L, et al. Mutations in SLC20A2 link familial idiopathic basal ganglia calcification with phosphate homeostasis. Nature Genet. 2012; 44(3): 254–6.Google Scholar
Harris, CM, Walker, J, Shawkat, F, Wilson, J, Russell-Eggitt, I. Eye movements in a familial vestibulocerebellar disorder. Neuropediatrics. 1993; 3: 177–22.Google Scholar
Theunissen, EJ, Huygen, PL, Verhagen, WI. Familial vestibulocerebellar dysfunction: a new syndrome? J Neurol Sci. 1989; 89: 49155.Google Scholar
CDC. Acting fast is key with necrotizing fasciitis. June 15, 2016. https://www.cdc.gov/features/necrotizingfasciitis/index.html. Accessed Aug 15, 2019.Google Scholar
Lareau, CR, Sawyer, GA, Wang, JH, Digiovanni, CW. Plantar and medial heel pain: diagnosis and management. J Am Acad Orthoped Surg. 2014; 22(6) 372–80.Google Scholar
Ashrafi, K, Bargues, MD, O'Neill, S, Mas-Coma, S. Fascioliasis: a worldwide parasitic disease of importance in travel medicine. Travel Med Infect Dis. 2014; 12: 636–49.Google Scholar
Mas-Coma, MS, Esteban, JG, Bargues, MD. Epidemiology of human fascioliasis: a review and proposed new classification. Bull World Health Organ. 1999; 77: 340–6.Google Scholar
Saba, R, Korkmaz, M, Inan, D, et al. Human fascioliasis. Clin Microbiol Infect. 2004; 10: 385–7.Google Scholar
Arjona, R, Riancho, JA, Aguado, JM, Salesa, R, Gonzalez-Macias, J. Fascioliasis in developed countries: a review of classic aberrant forms of the disease. Medicine. 1995; 74: 1323.Google Scholar
American Academy of Sleep Medicine. The international classification of sleep disorders. 3rd ed. Chicago, IL; American Academy of Sleep Medicine; 2014.Google Scholar
Krasnianski, A, Bartl, M, Sanchez Juan, PJ, et al. Fatal familial insomnia: Clinical features and early identification. Ann Neurol. 2008; 63(5): 658.CrossRefGoogle ScholarPubMed
Manetto, V, Medori, R, Cortelli, P, et al. Fatal familial insomnia: clinical and pathologic study of five new cases. Neurology. 1992; 42(2): 312.Google Scholar
Mastrianni, JA, Nixon, R, Layzer, R, et al. Prion protein conformation in a patient with sporadic fatal insomnia. New Engl J Med. 1999; 340: 1630–8.Google Scholar
Peng, B, Zhang, S, Dong, H, Lu, Z. Clinical, histopathological and genetic studies in a case of fatal familial insomnia with review of the literature. Int J Clin Exp Pathol. 2015; 8: 10171–7.Google Scholar
Gupta, A, Riley, CS. Fat embolism. Contin Educ Anaesth Crit Care Pain. 2007; 7(5): 148–51. DOI: 10.1093/bjaceaccp/mkm027.CrossRefGoogle Scholar
Baulac, S, et al. Evidence for digenic inheritance in a family with both febrile convulsions and temporal lobe epilepsy implicating chromosomes 18qter and 1q25-q31. Ann Neurol. 2001; 49(6): 786–92.CrossRefGoogle Scholar
Ashwal, S, Swaiman, KF. Swaiman's pediatric neurology. 5th ed. Edinburgh: Saunders; 2012.Google Scholar
Patel, N, et al. Febrile seizures. BMJ. 2015; 351: h4240.CrossRefGoogle ScholarPubMed
American Psychiatric Association. Diagnostic and statistical manual of mental disorders: DSM-5. 5th ed. Washington, DC: American Psychiatric Association; 2013.Google Scholar
Bancroft, J, Loftus, J, Long, JS. Distress about sex: a national survey of women in heterosexual relationships. Arch Sex Behav. 2003; 32(3): 193208.Google Scholar
Woo, JS, Brotto, LA, Gorzalka, BB. The relationship between sex guilt and sexual desire in a community sample of Chinese and Euro-Canadian women. J Sex Res. 2012; 49(2–3): 290–8.Google Scholar
Rutkove, S. Overview of lower extremity peripheral nerve syndromes. Dec 2014. Uptodate. Availabe from https://www.uptodate.com/contents/overview-of-upper-extremity-peripheral-nerve-syndromes?topicRef=5278&source=see_linkGoogle Scholar
Luscher, TF, Lie, JT, Stanson, AW, et al. Arterial fibromuscular dysplasia. Mayo Clin Proc. 1987; 62(10): 931–52.CrossRefGoogle ScholarPubMed
Gregorius, J, Sips, GJ, Wilschut, J, Smit, JM. Neuroinvasive flavivirus infections. Rev Med Virol. 2012; 22: 6987.Google Scholar
Mackenzie, JS, Gubler, DJ, Petersen, LR. Emerging flaviviruses: the spread and resurgence of Japanese encephalitis, West Nile and dengue viruses. Nature Med. 2004; 10: S98S109.Google Scholar
Solomon, T. Flavivirus encephalitis. New Engl J Med. 2004; 351: 370–8.Google Scholar
Reiman, CA, Hayes, EB, Diguiseppi, C, et al. Epidemiology of neuroinvasive arboviral disease in the United States, 1999–2007. Am J Trop Med Hyg. 2008; 79: 974–9.Google Scholar
Gallagher, RC, et al. Folinic acid-responsive seizures are identical to pyridoxine-dependent epilepsy. Ann Neurol. 2009; 65(5): 550–6.Google Scholar
Tabarki, B, Thabet, F. [Vitamin-responsive epilepsies: an update]. Arch Pediatr. 2013; 20(11): 1236–41.Google Scholar
OMIM. Fragile X mental retardation syndrome (300624). 2006. www.omim.org/entry/300624. Accessed Aug 7, 2018.Google Scholar
Saul, RA, Tarleton, JC. FMR1-related disorders. In Pagon, RA, Adam, MP, Ardinger, HH, et al., eds. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993–2016. Available from www.ncbi.nlm.nih.gov/books/NBK1384/. Accessed Aug 7, 2018.Google Scholar
Hagerman, RJ, Hagerman, PJ. The fragile X premutation: into the phenotypic fold. Curr Opin Genet Dev. 2002; 12: 278–83.Google Scholar
Hatton, DD, Sideris, J, Skinner, M, et al. Autistic behavior in children with fragile X syndrome: prevalence, stability, and the impact of FMRP. Am J Med Genet A. 2006; 140A: 1804–13.Google Scholar
de Vries, BB, van den Ouweland, AM, Mohkamsing, S, et al. Screening and diagnosis for the fragile X syndrome among the mentally retarded: an epidemiological and psychological survey. Collaborative Fragile X Study Group. Am J Hum Genet. 1997; 61: 660–7.Google Scholar
Coffee, B, Keith, K, Albizua, I, et al. Incidence of fragile X syndrome by newborn screening for methylated FMR1 DNA. Am J Hum Genet. 2009; 85: 503–14.Google Scholar
Bear, MF, Huber, KM, Warren, ST. The mGluR theory of fragile X mental retardation. Trends Neurosci. 2004; 27: 370–7.CrossRefGoogle ScholarPubMed
Crawford, DC, Meadows, KL, Newman, JL, et al. Prevalence of the fragile X syndrome in African-Americans. Am J Med Genet. 2002; 110: 226–33.Google Scholar
Moro, F, Pisano, T, Bernardina, BD, et al. Periventricular heterotopia in fragile X syndrome. Neurology. 2006; 67: 713–5.Google Scholar
Berry-Kravis, E, et al. Fragile X-associated tremor/ataxia syndrome: clinical features, genetics, and testing guidelines. Mov Disord. 2007; 22(14): 2018–30.Google Scholar
Hagerman, PJ, Hagerman, RJ. Fragile X-associated tremor/ataxia syndrome. Ann. NY Acad Sci. 2015; 1338: 5870. DOI: 10.1111/nyas.12693Google Scholar
Jacquemont, S, et al. Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am J Hum Genet. 2003; 72(4): 869–78.CrossRefGoogle ScholarPubMed
Delatycki, MB, Paris, DB, Gardner, RJ, et al. Clinical and genetic study of Friedreich ataxia in an Australian population. Am J Med Genet. 1999; 87: 168–74.Google Scholar
Bidichandani, SI, Delatycki, MB. Friedreich ataxia. In Pagon, RA, Adam, MP, Ardinger, HH, et al., eds. GeneReviews® [Internet]. Seattle, WA: University of Washington, Seattle; 1993–2016. Available from www.ncbi.nlm.nih.gov/books/NBK1281/Google Scholar
Al-Mahdawi, S, Pinto, RM, Varshney, D, et al. GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology. Genomics. 2006; 88(5): 580–90.Google Scholar
Delatycki, MB, Knight, M, Koenig, M, et al. G130V, a common FRDA point mutation, appears to have arisen from a common founder. Hum Genet. 1999; 105: 343–6.Google Scholar
Tsou, AY, Paulsen, EK, Lagedrost, SJ, et al. Mortality in Friedreich ataxia. J Neurol Sci. 2011; 307: 46–9.Google Scholar
Mantovan, MC, Martinuzzi, A, Squarzanti, F, et al. Exploring mental status in Friedreich's ataxia: a combined neuropsychological, behavioral and neuroimaging study. Eur J Neurol. 2006; 13: 827–35.Google Scholar
Klopper, F, Delatycki, MB, Corben, LA, et al. The test of everyday attention reveals significant sustained volitional attention and working memory deficits in Friedreich ataxia. J Int Neuropsychol Soc. 2011; 17: 196200.Google Scholar
Lynch, DR, Farmer, JM, Tsou, AY, et al. Measuring Friedreich ataxia: complementary features of examination and performance measures. Neurology. 2006; 66: 1711–6.Google Scholar
Lynch, DR, Perlman, SL, Meier, T. A phase 3, double-blind, placebo-controlled trial of idebenone in Friedreich ataxia. Arch Neurol. 2010; 67: 941–7.CrossRefGoogle ScholarPubMed
Lynch, DR, Regner, SR, Schadt, KA, et al. Management and therapy for cardiomyopathy in Friedreich's ataxia. Expert Rev Cardiovasc Ther. 2012; 10: 767–77.Google Scholar
Lynch, DR, Willi, SM, Wilson, RB, et al. A0001 in Friedreich ataxia: biochemical characterization and effects in a clinical trial. Mov Disord. 2012; 27: 1026–33.Google Scholar
Gold, JA, Sher, Y, Maldonado, JR. Frontal lobe epilepsy: a primer for psychiatrists and a systematic review of psychiatric manifestations. Psychosomatics. 2016; 57: 445–64.Google Scholar
Matricardi, S, Deleo, F, Ragona, F, et al. Neuropsychological profiles and outcomes in children with new onset frontal lobe epilepsy. Epilepsy Behav. 2016; 55: 7983.Google Scholar
Bagla, R, Skidmore, CT. Frontal lobe seizures. Neurologist. 2011; 17(3): 125–35.Google Scholar
Knopman, DS, Roberts, RO. Estimating the number of persons with frontotemporal lobar degeneration in the US population. J Mol Neurosci. 2011: 45: 330–5.Google Scholar
Bang, J, Spina, S, Miller, BL. Frontotemporal dementia. Lancet. 2015; 386: 1672–82.Google Scholar
Finger, EC. Frontotemporal dementias. Continuum (Minneap Minn). 2016; 22: 464–89.Google Scholar
Gorno-Tempini, ML, Hillis, AE, Weintraub, S, et al. Classification of primary progressive aphasia and its variants. Neurology. 2011; 76: 1006–14.Google Scholar
van Blitterswijk, M, DeJesus-Hernandez, M, Rademakers, R. How do C9ORF72 repeat expansions cause amyotrophic lateral sclerosis and frontotemporal dementia: can we learn from other noncoding repeat expansion disorders? Curr Opin Neurol. 2012; 25: 689700.Google Scholar
American Psychiatric Association. Diagnostic and statistical manual of mental disorders: DSM-5. 5th ed. Washington, DC: American Psychiatric Association; 2013.Google Scholar
LaFrance, WC, et al. Treating nonepileptic seizures. New York: Oxford University Press; 2015.Google Scholar
Bruce, BB, Newman, NJ. Functional visual loss. Neurol Clin North Am. 2010; 28(3): 789802.Google Scholar
Lim, SA, Siatkowski, RM, Farris, BJ. Functional visual loss in adults and children. Ophthalmology. 2005; 112: 1821–8.Google Scholar
Sharma, RR. Fungal infections of the nervous system: Current perspective and controversies in management: Int J Surg. 2010; 8: 591601.Google Scholar
Gavito-Higuera, J, Mullins, CB, Ramos-Duran, L, et al. Fungal infections of the central nervous system: a pictorial review. J Clin Imaging Sci. 2016; 6: 24.Google Scholar
Mathur, M, Johnson, CE, Sze, G. Fungal infections of the central nervous system. Neuroimag Clin N Am. 2012; 22(4): 609–32.Google Scholar
Citron, DM. Update on the taxonomy and clinical aspects of the genus Fusobacterium. Clin Infect Dis. 2002; 35(Suppl 1): S22–7.Google Scholar
Afra, K, Laupland, K, Leal, J, Lloyd, T, Gregson, D. Incidence, risk factors, and outcomes of Fusobacterium species bacteraemia. BCM Infect Dis. 2013; 13: 264.Google Scholar
Huggan, PJ, Murdoch, DR. Fusobacterial infections: clinical spectrum and incidence of invasive disease. J Infect. 2008; 57: 283–9.CrossRefGoogle ScholarPubMed
Nohrström, E, Mattila, T, Pettilä, V, et al. Clinical spectrum of bacteraemic Fusobacterium infections: from septic shock to nosocomial bacteraemia. Scand J Infect Dis. 2011; 43(6–7): 463–70. DOI: 10.3109/00365548.2011.565071.Google Scholar
Hsieh, MJ, Chang, WN, Lui, CC, et al. Clinical characteristics of fusobacterial brain abscess. Jpn J Infect Dis. 2007; 60: 40–4.Google Scholar
Olson, KR, Freitag, SK, Johnson, JM, Branda, JA. Case 36–2014: an 18 year-old woman with fever, pharyngitis, and double vision. N Engl J Med. 2014; 371: 2018–27. DOI: 10.1056/NEJMcpc131001.Google Scholar

Save book to Kindle

To save this book to your Kindle, first ensure coreplatform@cambridge.org is added to your Approved Personal Document E-mail List under your Personal Document Settings on the Manage Your Content and Devices page of your Amazon account. Then enter the ‘name’ part of your Kindle email address below. Find out more about saving to your Kindle.

Note you can select to save to either the @free.kindle.com or @kindle.com variations. ‘@free.kindle.com’ emails are free but can only be saved to your device when it is connected to wi-fi. ‘@kindle.com’ emails can be delivered even when you are not connected to wi-fi, but note that service fees apply.

Find out more about the Kindle Personal Document Service.

Available formats
×

Save book to Dropbox

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Dropbox.

Available formats
×

Save book to Google Drive

To save content items to your account, please confirm that you agree to abide by our usage policies. If this is the first time you use this feature, you will be asked to authorise Cambridge Core to connect with your account. Find out more about saving content to Google Drive.

Available formats
×