Skip to main content Accessibility help

We use cookies to distinguish you from other users and to provide you with a better experience on our websites. Close this message to accept cookies or find out how to manage your cookie settings.

Close cookie message
×
Hostname: page-component-848d4c4894-2pzkn Total loading time: 0 Render date: 2024-05-11T04:57:08.169Z Has data issue: false hasContentIssue false

Chapter 1 - Treatable Metabolic Movement Disorders: The Top 10

from Section I - General Principles and a Phenomenology-Based Approach to Movement Disorders and Inherited Metabolic Disorders

Published online by Cambridge University Press:  24 September 2020

By
Darius Ebrahimi-Fakhari  and
Phillip L. Pearl
Edited by
Darius Ebrahimi-Fakhari  and
Phillip L. Pearl
Darius Ebrahimi-Fakhari
Affiliation:
Harvard Medical School
Phillip L. Pearl
Affiliation:
Harvard Medical School
Get access

Summary

Inherited metabolic movement disorders are an important and evolving group of disorders that bridge two subspecialty areas: childhood-onset movement disorders and inborn errors of metabolism. Individually, many of these disorders are rare but in aggregate they represent a substantial clinical burden. It is in their complex nature that they require a multidisciplinary approach that includes pediatricians, neurologists, and geneticists among others.

Type
Chapter
Information
Movement Disorders and Inherited Metabolic Disorders
Recognition, Understanding, Improving Outcomes
 , pp. 1 - 14
Publisher: Cambridge University Press
Print publication year: 2020

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

Garrod, AE. The incidence of alkaptonuria: A study in chemical individuality. Lancet. 1902;2:1616–20.Google Scholar
Garrod, AE. The Croonian lectures on inborn errors of metabolism. Lancet. 1908;2:1–7.Google Scholar
Ferreira, CR, van Karnebeek, CDM, Vockley, J, Blau, N. A proposed nosology of inborn errors of metabolism. Genet Med. 2019;21(1):102–6.Google Scholar
Ebrahimi-Fakhari, D, Saffari, A, Wahlster, L, et al. Congenital disorders of autophagy: An emerging novel class of inborn errors of neuro-metabolism. Brain. 2016;139(Pt 2):317–37.Google Scholar
Ebrahimi-Fakhari, D, Van Karnebeek, C, Munchau, A. Movement disorders in treatable inborn errors of metabolism. Mov Disord. 2019;34:598–613.Google Scholar
Patterson, MC, Mengel, E, Wijburg, FA, et al. Disease and patient characteristics in NP-C patients: Findings from an international disease registry. Orphanet J Rare Dis. 2013;8:12.CrossRefGoogle ScholarPubMed
Stampfer, M, Theiss, S, Amraoui, Y, et al. Niemann–Pick disease type C clinical database: Cognitive and coordination deficits are early disease indicators. Orphanet J Rare Dis. 2013;8:35.CrossRefGoogle ScholarPubMed
Carstea, ED, Morris, JA, Coleman, KG, et al. Niemann–Pick C1 disease gene: Homology to mediators of cholesterol homeostasis. Science. 1997;277(5323):228-31.Google Scholar
Naureckiene, S, Sleat, DE, Lackland, H, et al. Identification of HE1 as the second gene of Niemann–Pick C disease. Science. 2000;290(5500):2298–301.CrossRefGoogle ScholarPubMed
Anheim, M, Lagha-Boukbiza, O, Fleury-Lesaunier, MC, et al. Heterogeneity and frequency of movement disorders in juvenile and adult-onset Niemann–Pick C disease. J Neurol. 2014;261(1):174–9.Google Scholar
Ebrahimi-Fakhari, D, Hildebrandt, C, Davis, PE, et al. The spectrum of movement disorders in childhood-onset lysosomal storage diseases. Mov Disord Clin Pract. 2018;5(2):149–55.Google Scholar
Sevin, M, Lesca, G, Baumann, N, Millat, G, Lyon-Caen, O, Vanier, MT, et al. The adult form of Niemann–Pick disease type C. Brain. 2007;130(Pt 1):120–33.Google ScholarPubMed
Koens, LH, Kuiper, A, Coenen, MA, et al. Ataxia, dystonia and myoclonus in adult patients with Niemann–Pick type C. Orphanet J Rare Dis. 2016;11:121.Google Scholar
Patterson, MC, Clayton, P, Gissen, P, et al. Recommendations for the detection and diagnosis of Niemann–Pick disease type C: An update. Neurol Clin Pract. 2017;7(6):499–511.CrossRefGoogle ScholarPubMed
Synofzik, M, Harmuth, F, Stampfer, M, et al. NPC1 is enriched in unexplained early onset ataxia: A targeted high-throughput screening. J Neurol. 2015;262(11):2557–63.Google Scholar
Synofzik, M, Fleszar, Z, Schols, L, et al. Identifying Niemann-Pick type C in early-onset ataxia: two quick clinical screening tools. J Neurol. 2016;263(10):1911-8.Google Scholar
Canafoglia, L, Bugiani, M, Uziel, G, et al. Rhythmic cortical myoclonus in Niemann–Pick disease type C. Mov Disord. 2006;21(9):1453–6.Google Scholar
Pineda, M, Mengel, E, Jahnova, H, et al. A suspicion index to aid screening of early-onset Niemann–Pick disease type C (NP-C). BMC Pediatrics. 2016;16:107.Google Scholar
Patterson, MC, Hendriksz, CJ, Walterfang, M, et al. Recommendations for the diagnosis and management of Niemann–Pick disease type C: An update. Mol Genet Metab. 2012;106(3):330–44.CrossRefGoogle ScholarPubMed
Ory, DS, Ottinger, EA, Farhat, NY, et al. Intrathecal 2-hydroxypropyl-beta-cyclodextrin decreases neurological disease progression in Niemann–Pick disease, type C1: A non-randomised, open-label, phase 1-2 trial. Lancet. 2017;390(10104):1758–68.CrossRefGoogle ScholarPubMed
Tuschl, K, Clayton, PT, Gospe, SM, Jr., et al. Syndrome of hepatic cirrhosis, dystonia, polycythemia, and hypermanganesemia caused by mutations in SLC30A10, a manganese transporter in man. Am J Hum Genet. 2012;90(3):457–66.CrossRefGoogle ScholarPubMed
Quadri, M, Federico, A, Zhao, T, et al. Mutations in SLC30A10 cause parkinsonism and dystonia with hypermanganesemia, polycythemia, and chronic liver disease. Am J Hum Genet. 2012;90(3):467–77.Google Scholar
Tuschl, K, Mills, PB, Parsons, H, et al. Hepatic cirrhosis, dystonia, polycythaemia and hypermanganesaemia: A new metabolic disorder. J Inherit Metab Dis. 2008;31(2):151–63.CrossRefGoogle ScholarPubMed
Gospe, SM, Jr., Caruso, RD, Clegg, MS, et al. Paraparesis, hypermanganesaemia, and polycythaemia: A novel presentation of cirrhosis. Arch Dis Child. 2000;83(5):439–42.Google Scholar
Brna, P, Gordon, K, Dooley, JM, Price, V. Manganese toxicity in a child with iron deficiency and polycythemia. J Child Neurol. 2011;26(7):891–4.Google Scholar
Quadri, M, Kamate, M, Sharma, S, et al. Manganese transport disorder: Novel SLC30A10 mutations and early phenotypes. Mov Disord. 2015;30(7):996–1001.Google Scholar
Zaki, MS, Issa, MY, Elbendary, HM, et al. Hypermanganesemia with dystonia, polycythemia and cirrhosis in 10 patients: Six novel SLC30A10 mutations and further phenotype delineation. Clin Genet. 2018; 93(4):905–12.CrossRefGoogle ScholarPubMed
Tuschl, K, Meyer, E, Valdivia, LE, et al. Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia. Nature Commun. 2016;7:11601.Google Scholar
Aydemir, TB, Kim, MH, Kim, J, et al. Metal Transporter Zip14 (SlC39A14) deletion in mice increases manganese deposition and produces neurotoxic signatures and diminished motor activity. J Neurosci. 2017;37(25):5996–6006.Google Scholar
Jenkitkasemwong, S, Akinyode, A, Paulus, E, et al. SLC39A14 deficiency alters manganese homeostasis and excretion resulting in brain manganese accumulation and motor deficits in mice. Proc Natl Acad Sci USA. 2018;115(8):E1769–78.CrossRefGoogle ScholarPubMed
Xin, Y, Gao, H, Wang, J, et al. Manganese transporter SlC39A14 deficiency revealed its key role in maintaining manganese homeostasis in mice. Cell Discov. 2017;3:17025.CrossRefGoogle ScholarPubMed
Rodan, LH, Hauptman, M, D’Gama, AMet al. Novel founder intronic variant in SLC39A14 in two families causing manganism and potential treatment strategies. Mol Genet Metab. 2018;124(2):161–7.Google Scholar
Stamelou, M, Tuschl, K, Chong, WK, et al. Dystonia with brain manganese accumulation resulting from SLC30A10 mutations: A new treatable disorder. Mov Disord. 2012;27(10):1317–22.CrossRefGoogle ScholarPubMed
Di Toro Mammarella, L, Mignarri, A, Battisti, C, et al. Two-year follow-up after chelating therapy in a patient with adult-onset parkinsonism and hypermanganesaemia due to SLC30A10 mutations. J Neurol. 2014;261(1):227–8.Google Scholar
Gulab, S, Kayyali, HR, Al-Said, Y. Atypical neurologic phenotype and novel SLC30A10 mutation in two brothers with hereditary hypermanganesemia. Neuropediatrics. 2018;49(1):72–5.Google Scholar
Marti-Sanchez, L, Ortigoza-Escobar, JD, Darling, A, et al. Hypermanganesemia due to mutations in SLC39A14: Further insights into Mn deposition in the central nervous system. Orphanet J Rare Dis. 2018;13:28.Google Scholar
Mukhtiar, K, Ibrahim, S, Tuschl, K, Mills, P. Hypermanganesemia with dystonia, polycythemia and cirrhosis (HMDPC) due to mutation in the SLC30A10 gene. Brain Dev. 2016;38(9):862–5.Google Scholar
Cali, JJ, Hsieh, CL, Francke, U, Russell, DW. Mutations in the bile acid biosynthetic enzyme sterol 27-hydroxylase underlie cerebrotendinous xanthomatosis. J Biol Chem. 1991;266(12):7779–83.Google Scholar
Wong, JC, Walsh, K, Hayden, D, Eichler, FS. Natural history of neurological abnormalities in cerebrotendinous xanthomatosis. J Inherit Metab Dis. 2018;41(4):647–56.CrossRefGoogle ScholarPubMed
Degos, B, Nadjar, Y, Amador Mdel, M, et al. Natural history of cerebrotendinous xanthomatosis: A paediatric disease diagnosed in adulthood. Orphanet J Rare Dis. 2016;11:41.Google Scholar
Lagarde, J, Roze, E, Apartis, E, et al. Myoclonus and dystonia in cerebrotendinous xanthomatosis. Mov Disord. 2012;27(14):1805–10.CrossRefGoogle ScholarPubMed
Rubio-Agusti, I, Kojovic, M, Edwards, MJ, et al. Atypical parkinsonism and cerebrotendinous xanthomatosis: Report of a family with corticobasal syndrome and a literature review. Mov Disord. 2012;27(14):1769–74.Google Scholar
Mignarri, A, Dotti, MT, Federico, A, et al. The spectrum of magnetic resonance findings in cerebrotendinous xanthomatosis: Redefinition and evidence of new markers of disease progression. J Neurol. 2017;264(5):862–74.CrossRefGoogle ScholarPubMed
Berginer, VM, Gross, B, Morad, K, et al. Chronic diarrhea and juvenile cataracts: Think cerebrotendinous xanthomatosis and treat. Pediatrics. 2009;123(1):143–7.Google Scholar
Biery, BJ, Stein, DE, Morton, DH, Goodman, SI. Gene structure and mutations of glutaryl-coenzyme A dehydrogenase: impaired association of enzyme subunits that is due to an A421V substitution causes glutaric acidemia type I in the Amish. Am J Hum Genet. 1996;59(5):1006–11.Google Scholar
Kolker, S, Burgard, P, Sauer, SW, Okun, JG. Current concepts in organic acidurias: Understanding intra- and extracerebral disease manifestation. J Inherit Metab Dis. 2013;36(4):635-44.Google Scholar
Kolker, S, Garcia-Cazorla, A, Valayannopoulos, V, et al. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 1: The initial presentation. J Inherit Metab Dis. 2015;38(6):1041–57.Google ScholarPubMed
Gitiaux, C, Roze, E, Kinugawa, K, et al. Spectrum of movement disorders associated with glutaric aciduria type 1: A study of 16 patients. Mov Disord. 2008;23(16):2392–7.Google Scholar
Kulkens, S, Harting, I, Sauer, S, et al. Late-onset neurologic disease in glutaryl-CoA dehydrogenase deficiency. Neurology. 2005;64(12):2142–4.Google Scholar
Kolker, S, Valayannopoulos, V, Burlina, AB, et al. The phenotypic spectrum of organic acidurias and urea cycle disorders. Part 2: The evolving clinical phenotype. J Inherit Metab Dis. 2015;38(6):1059–74.Google Scholar
Harting, I, Neumaier-Probst, E, Seitz, A, et al. Dynamic changes of striatal and extrastriatal abnormalities in glutaric aciduria type I. Brain. 2009;132(Pt 7):1764–82.CrossRefGoogle ScholarPubMed
Heringer, J, Boy, SP, Ensenauer, R, et al. Use of guidelines improves the neurological outcome in glutaric aciduria type I. Ann Neurol. 2010;68(5):743–52.Google Scholar
Boy, N, Muhlhausen, C, Maier, EM, et al. Proposed recommendations for diagnosing and managing individuals with glutaric aciduria type I: Second revision. J Inherit Metab Dis. 2017;40(1):75–101.Google Scholar
Strauss, KA, Brumbaugh, J, Duffy, A, et al. Safety, efficacy and physiological actions of a lysine-free, arginine-rich formula to treat glutaryl-CoA dehydrogenase deficiency: Focus on cerebral amino acid influx. Mol Genet Metab. 2011;104(1-2):93–106.Google Scholar
Mercimek-Mahmutoglu, S, Stoeckler-Ipsiroglu, S, Adami, A, et al. GAMT deficiency: Features, treatment, and outcome in an inborn error of creatine synthesis. Neurology. 2006;67(3):480–4.CrossRefGoogle Scholar
Salomons, GS, van Dooren, SJ, Verhoeven, NM, et al. X-linked creatine-transporter gene (SLC6A8) defect: A new creatine-deficiency syndrome. Am J Hum Genet. 2001;68(6):1497–500.Google Scholar
Khaikin, Y, Sidky, S, Abdenur, J, et al. Treatment outcome of twenty-two patients with guanidinoacetate methyltransferase deficiency: An international retrospective cohort study. Eur J Paed Neurol. 2018;22(3):369–79.CrossRefGoogle ScholarPubMed
O’Rourke, DJ, Ryan, S, Salomons, G, et al. Guanidinoacetate methyltransferase (GAMT) deficiency: Late onset of movement disorder and preserved expressive language. Dev Med Child Neurol. 2009;51(5):404–7.Google Scholar
van de Kamp, JM, Betsalel, OT, Mercimek-Mahmutoglu, S, et al. Phenotype and genotype in 101 males with X-linked creatine transporter deficiency. J Med Genet. 2013;50(7):463–72.CrossRefGoogle ScholarPubMed
Ozand, PT, Gascon, GG, Al Essa, M, et al. Biotin-responsive basal ganglia disease: A novel entity. Brain. 1998;121(Pt 7):1267–79.Google Scholar
Zeng, WQ, Al-Yamani, E, Acierno, JS, Jr., et al. Biotin-responsive basal ganglia disease maps to 2q36.3 and is due to mutations in SLC19A3. Am J Hum Genet. 2005;77(1):16–26.Google Scholar
Kono, S, Miyajima, H, Yoshida, K, et al. Mutations in a thiamine-transporter gene and Wernicke’s-like encephalopathy. N Engl J Med. 2009;360(17):1792–4.CrossRefGoogle Scholar
Debs, R, Depienne, C, Rastetter, A, et al. Biotin-responsive basal ganglia disease in ethnic Europeans with novel SLC19A3 mutations. Arch Neurol. 2010;67(1):126–30.Google Scholar
Serrano, M, Rebollo, M, Depienne, C, et al. Reversible generalized dystonia and encephalopathy from thiamine transporter 2 deficiency. Mov Disord. 2012;27(10):1295–8.Google Scholar
Ortigoza-Escobar, JD, Serrano, M, Molero, M, et al. Thiamine transporter-2 deficiency: Outcome and treatment monitoring. Orphanet J Rare Dis. 2014;9:92.Google Scholar
Alfadhel, M, Almuntashri, M, Jadah, RH, et al. Biotin-responsive basal ganglia disease should be renamed biotin–thiamine-responsive basal ganglia disease: A retrospective review of the clinical, radiological and molecular findings of 18 new cases. Orphanet J Rare Dis. 2013;8:83.Google Scholar
Tabarki, B, Al-Shafi, S, Al-Shahwan, S, et al. Biotin-responsive basal ganglia disease revisited: Clinical, radiologic, and genetic findings. Neurology. 2013;80(3):261–7.CrossRefGoogle ScholarPubMed
Hentati, A, Deng, HX, Hung, WY, et al. Human alpha-tocopherol transfer protein: Gene structure and mutations in familial vitamin E deficiency. Ann Neurol. 1996;39(3):295–300.CrossRefGoogle ScholarPubMed
Harding, AE, Matthews, S, Jones, S, et al. Spinocerebellar degeneration associated with a selective defect of vitamin E absorption. N Engl J Med. 1985;313(1):32–5.Google Scholar
El Euch-Fayache, G, Bouhlal, Y, Amouri, R, Feki, M, Hentati, F. Molecular, clinical and peripheral neuropathy study of Tunisian patients with ataxia with vitamin E deficiency. Brain. 2014;137(Pt 2):402–10.Google Scholar
Becker, AE, Vargas, W, Pearson, TS. Ataxia with vitamin e deficiency may present with cervical dystonia. Tremor Other Hyperkinet Mov (NY). 2016;6:374.Google Scholar
Angelini, L, Erba, A, Mariotti, C, et al. Myoclonic dystonia as unique presentation of isolated vitamin E deficiency in a young patient. Mov Disord. 2002;17(3):612–4.Google Scholar
Mariotti, C, Gellera, C, Rimoldi, M, Mineri, R, Uziel, G, Zorzi, G, et al. Ataxia with isolated vitamin E deficiency: Neurological phenotype, clinical follow-up and novel mutations in TTPA gene in Italian families. Neurol Sci. 2004;25(3):130–7.Google Scholar
Yokota, T, Uchihara, T, Kumagai, J, et al. Postmortem study of ataxia with retinitis pigmentosa by mutation of the alpha-tocopherol transfer protein gene. J Neurol Neurosurg Psychiatry. 2000;68(4):521–5.CrossRefGoogle ScholarPubMed
Schuelke, M. Ataxia with vitamin E deficiency. GeneReviews®. 2005;May 20 (updated 16 Oct 2013).Google Scholar
Gabsi, S, Gouider-Khouja, N, Belal, S, et al. Effect of vitamin E supplementation in patients with ataxia with vitamin E deficiency. Eur J Neurol. 2001;8(5):477–81.CrossRefGoogle ScholarPubMed
De Vivo, DC, Trifiletti, RR, Jacobson, RI, et al. Defective glucose transport across the blood–brain barrier as a cause of persistent hypoglycorrhachia, seizures, and developmental delay. N Engl J Med. 1991;325(10):703–9.Google Scholar
Pearson, TS, Akman, C, Hinton, VJ, Engelstad, K, De Vivo, DC. Phenotypic spectrum of glucose transporter type 1 deficiency syndrome (Glut1 DS). Curr Neurol Neurosci Rep. 2013;13(4):342.Google Scholar
Suls, A, Dedeken, P, Goffin, K, et al. Paroxysmal exercise-induced dyskinesia and epilepsy is due to mutations in SLC2A1, encoding the glucose transporter Glut1. Brain. 2008;131(Pt 7):1831–44.Google Scholar
Pong, AW, Geary, BR, Engelstad, KM, et al. Glucose transporter type I deficiency syndrome: Epilepsy phenotypes and outcomes. Epilepsia. 2012;53(9):1503–10.Google Scholar
Pons, R, Collins, A, Rotstein, M, Engelstad, K, De Vivo, DC. The spectrum of movement disorders in Glut-1 deficiency. Mov Disord. 2010;25(3):275–81.Google Scholar
Pearson, TS, Pons, R, Engelstad, K, et al. Paroxysmal eye–head movements in Glut1 deficiency syndrome. Neurology. 2017;88(17):1666–73.Google Scholar
Leen, WG, Klepper, J, Verbeek, MM, et al. Glucose transporter-1 deficiency syndrome: The expanding clinical and genetic spectrum of a treatable disorder. Brain. 2010;133(Pt 3):655–70.Google Scholar
Weber, YG, Storch, A, Wuttke, TV, et al. Glut1 mutations are a cause of paroxysmal exertion-induced dyskinesias and induce hemolytic anemia by a cation leak. J Clin Invest. 2008;118(6):2157–68.Google Scholar
Perez-Duenas, B, Prior, C, Ma, Q, et al. Childhood chorea with cerebral hypotrophy: A treatable Glut1 energy failure syndrome. Arch Neurol. 2009;66(11):1410–4.Google Scholar
Friedman, JR, Thiele, EA, Wang, D, et al. Atypical Glut1 deficiency with prominent movement disorder responsive to ketogenic diet. Mov Disord. 2006;21(2):241–5.Google Scholar
Rotstein, M, Doran, J, Yang, H, et al. Glut1 deficiency and alternating hemiplegia of childhood. Neurology. 2009;73(23):2042-4.Google Scholar
Weller, CM, Leen, WG, Neville, BG, et al. A novel SLC2A1 mutation linking hemiplegic migraine with alternating hemiplegia of childhood. Cephalalgia. 2015;35(1):10–5.Google Scholar
Urbizu, A, Cuenca-Leon, E, Raspall-Chaure, M, et al. Paroxysmal exercise-induced dyskinesia, writer’s cramp, migraine with aura and absence epilepsy in twin brothers with a novel SLC2A1 missense mutation. J Neurol Sci. 2010;295(1-2):110–3.Google Scholar
Pascual, JM, Van Heertum, RL, Wang, D, Engelstad, K, De Vivo, DC. Imaging the metabolic footprint of Glut1 deficiency on the brain. Ann Neurol. 2002;52(4):458–64.Google Scholar
Leen, WG, Mewasingh, L, Verbeek, MM, et al. Movement disorders in Glut1 deficiency syndrome respond to the modified Atkins diet. Mov Disord. 2013;28(10):1439–42.Google Scholar
Machado, A, Chien, HF, Deguti, MM, et al. Neurological manifestations in Wilson’s disease: Report of 119 cases. Mov Disord. 2006;21(12):2192–6.Google Scholar
Taly, AB, Meenakshi-Sundaram, S, Sinha, S, Swamy, HS, Arunodaya, GR. Wilson disease: Description of 282 patients evaluated over 3 decades. Medicine. 2007;86(2):112–21.Google Scholar
Svetel, M, Kozic, D, Stefanova, E, et al. Dystonia in Wilson’s disease. Mov Disord 2001;16(4):719–23.Google Scholar
Walshe, JM, Yealland, M. Wilson’s disease: The problem of delayed diagnosis. J Neurol Neurosurg Psychiatry. 1992;55(8):692–6.Google Scholar
Pearl, PL. Monoamine neurotransmitter deficiencies. Handbook Clin Neurol. 2013;113:1819–25.Google Scholar
Ng, J, Papandreou, A, Heales, SJ, Kurian, MA. Monoamine neurotransmitter disorders: Clinical advances and future perspectives. Nature Rev Neurol. 2015;11(10):567–84.Google Scholar
Jan, MM. Misdiagnoses in children with Dopa-responsive dystonia. Pediatr Neurol. 2004;31(4):298–303.Google Scholar
Segawa, M, Nomura, Y, Nishiyama, N. Autosomal dominant guanosine triphosphate cyclohydrolase I deficiency (Segawa disease). Ann Neurol. 2003;54(Suppl 6):S32–45.Google Scholar
Assmann, B, Surtees, R, Hoffmann, GF. Approach to the diagnosis of neurotransmitter diseases exemplified by the differential diagnosis of childhood-onset dystonia. Ann Neurol. 2003;54(Suppl 6):S18–24.Google Scholar
Tadic, V, Kasten, M, Bruggemann, N, et al. Dopa-responsive dystonia revisited: Diagnostic delay, residual signs, and nonmotor signs. Arch Neurol. 2012;69(12):1558–62.Google Scholar
Nygaard, TG, Marsden, CD, Fahn, S. Dopa-responsive dystonia: Long-term treatment response and prognosis. Neurology. 1991;41(2 Pt 1)):174–81.CrossRefGoogle ScholarPubMed
Trender-Gerhard, I, Sweeney, MG, Schwingenschuh, P, et al. Autosomal-dominant GTPCH1-deficient DRD: Clinical characteristics and long-term outcome of 34 patients. J Neurol Neurosurg Psychiatry. 2009;80(8):839–45.Google Scholar
Patterson, MC, Vecchio, D, Prady, H, Abel, L, Wraith, JE. Miglustat for treatment of Niemann–Pick C disease: A randomised controlled study. Lancet Neurol. 2007;6(9):765–72.Google Scholar
Geberhiwot, T, Moro, A, Dardis, A, et al. Consensus clinical management guidelines for Niemann–Pick disease type C. Orphanet J Rare Dis. 2018;13:50.Google Scholar
Tuschl, K, Clayton, PT, Gospe, SM Jr., Mills, PB. Dystonia/parkinsonism, hypermanganesemia, polycythemia, and chronic liver disease. GeneReviews. 2003 Jul 16 (updated Apr 14, 2016).Google Scholar
Federico, A, Dotti, MT, Gallus, GN. Cerebrotendinous xanthomatosis. GeneReviews®. 2003;Jul 16 (updated Apr 14, 2016).Google Scholar
Tabarki, B, Al-Hashem, A, Alfadhel, M. Biotin-thiamine-responsive basal ganglia disease. GeneReviews®. 2013;Nov 21 (initial posting).Google Scholar
Weiss, KH. Wilson disease GeneReviews®. 1999; October 22 (updated Jul 29, 2016).CrossRefGoogle Scholar
Furukawa, Y. GTP Cyclohydrolase 1-deficient dopa-responsive dystonia. GeneReviews®. 2002; Feb 21 (updated Jan 24, 2019).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
×