Genetic disorders of thyroid metabolism and brain development

Developmental Medicine and Child Neurology

Volumn 56, Issue 7, 2014, Pages 627-634

  Kurian, Manju A ^a,b   Jungbluth, Heinz ^c,d,e  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^c EVELINA LONDON CHILDREN S HOSPITAL   (United Kingdom)

^d KING'S COLLEGE LONDON   (United Kingdom)

^e KING'S COLLEGE LONDON   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

THYROXINE;

ALLAN HERNDON DUDLEY SYNDROME; BRAIN DEVELOPMENT; CLINICAL FEATURE; DIFFERENTIAL DIAGNOSIS; DISEASE COURSE; FACIES; GENE FUNCTION; GENETIC DISORDER; HUMAN; HUNTINGTON CHOREA; HYPERTHYROIDISM; HYPOTHYROIDISM; INTELLECTUAL IMPAIRMENT; LABORATORY DIAGNOSIS; METABOLIC DISORDER; MOLECULAR GENETICS; MOTOR DYSFUNCTION; NEUROIMAGING; NEUROLOGIC DISEASE; PALLIATIVE THERAPY; PATHOPHYSIOLOGY; PRIORITY JOURNAL; PSYCHOMOTOR RETARDATION; RESPIRATORY TRACT DISEASE; REVIEW; SUBSTITUTION THERAPY; SYSTEMIC DISEASE; THYROID DISEASE; THYROID FUNCTION TEST; THYROID HORMONE METABOLISM;

BRAIN; BRAIN DISEASES; DIAGNOSIS, DIFFERENTIAL; HUMANS; NEUROIMAGING; THYROID DISEASES; THYROID GLAND;

EID: 84902329685     PISSN: 00121622     EISSN: 14698749     Source Type: Journal    
DOI: 10.1111/dmcn.12445     Document Type: Review

References (81)

1. Fagge CH. On Sporadic Cretinism, occurring in England. Med Chir Trans 1871; 54: 155-70.
2. Rastogi MV, LaFranchi SH. Congenital hypothyroidism. Orphanet J Rare Dis 2010; 5: 17.
3. Schiess N, Pardo CA. Hashimoto's encephalopathy. Ann N Y Acad Sci 2008; 1142: 254-65.
4. Mistry N, Wass J, Turner MR. When to consider thyroid dysfunction in the neurology clinic. Pract Neurol 2009; 9: 145-56.
5. Yen DJ, Shan DE, Lu SR. Hyperthyroidism presenting as recurrent short paroxysmal kinesigenic dyskinesia. Mov Disord 1998; 13: 361-3.
6. Puri V, Chaudhry N. Paroxysmal kinesigenic dyskinesia manifestation of hyperthyroidism. Neurol India 2004; 52: 102-3.
7. Allan W, Herndon CN, Dudley FC. Some examples of the inheritance of mental deficiency: apparently sex-linked idiocy and microcephaly. Am J Ment Defic 1944; 48: 325-34.
8. Passos-Bueno MR, Byth BC, Rosenberg S, et al. Severe nonspecific X-linked mental retardation caused by a proximally Xp located gene: intragenic heterogeneity or a new form of X-linked mental retardation? Am J Med Genet 1993; 46: 172-5.
9. Dumitrescu AM, Liao XH, Best TB, Brockmann K, Refetoff S. A novel syndrome combining thyroid and neurological abnormalities is associated with mutations in a monocarboxylate transporter gene. Am J Hum Genet 2004; 74: 168-75.
10. Schwartz CE, May MM, Carpenter NJ, et al. Allan-Herndon-Dudley syndrome and the monocarboxylate transporter 8 (MCT8) gene. Am J Hum Genet 2005; 77: 41-53.
11. Stevenson RE, Goodman HO, Schwartz CE, Simensen RJ, McLean WT Jr. Herndon CN. Allan-Herndon syndrome. I. Clinical studies. Am J Hum Genet 1990; 47: 446-53.
12. Bundey S, Griffiths MI. Recurrence risks in families of children with symmetrical spasticity. Dev Med Child Neurol 1977; 19: 179-91.
13. Bialer MG, Lawrence L, Stevenson RE, et al. Allan-Herndon-Dudley syndrome: clinical and linkage studies on a second family. Am J Med Genet 1992; 43: 491-7.
14. Friesema EC, Grueters A, Biebermann H, et al. Association between mutations in a thyroid hormone transporter and severe X-linked psychomotor retardation. Lancet 2004; 364: 1435-7.
15. Friesema EC, Ganguly S, Abdalla A, Manning Fox JE, Halestrap AP, Visser TJ. Identification of monocarboxylate transporter 8 as a specific thyroid hormone transporter. J Biol Chem 2003; 278: 40128-35.
16. Tonduti D, Vanderver A, Berardinelli A, et al. MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features. J Child Neurol 2013; 28: 795-800.
17. Gika AD, Siddiqui A, Hulse AJ, et al. White matter abnormalities and dystonic motor disorder associated with mutations in the SLC16A2 gene. Dev Med Child Neurol 2010; 52: 475-82.
18. Brockmann K, Dumitrescu AM, Best TT, Hanefeld F, Refetoff S. X-linked paroxysmal dyskinesia and severe global retardation caused by defective MCT8 gene. J Neurol 2005; 252: 663-6.
19. Boccone L, Mariotti S, Dessi V, Pruna D, Meloni A, Loudianos G. Allan-Herndon-Dudley syndrome (AHDS) caused by a novel SLC16A2 gene mutation showing severe neurologic features and unexpectedly low TRH-stimulated serum TSH. Eur J Med Genet 2010; 53: 392-5.
20. Holden KR, Zuniga OF, May MM, et al. X-linked MCT8 gene mutations: characterization of the pediatric neurologic phenotype. J Child Neurol 2005; 20: 852-7.
21. Visser WE, Vrijmoeth P, Visser FE, Arts WF, van Toor H, Visser TJ. Identification, functional analysis, prevalence and treatment of monocarboxylate transporter 8 (MCT8) mutations in a cohort of adult patients with mental retardation. Clin Endocrinol 2013; 78: 310-5.
22. Vaurs-Barriere C, Deville M, Sarret C, et al. Pelizaeus-Merzbacher-Like disease presentation of MCT8 mutated male subjects. Ann Neurol 2009; 65: 114-8.
23. Bohan TP, Azizi P. Allan-Herndon-Dudley syndrome: should the locus for this hereditary spastic paraplegia be designated SPG 22? [author reply]. Arch Neurol 2004; 61: 1470-1.
24. Kersseboom S, Visser TJ. Tissue-specific effects of mutations in the thyroid hormone transporter MCT8. Arq Bras Endocrinol Metabol 2011; 55: 1-5.
25. Biebermann H, Ambrugger P, Tarnow P, von Moers A, Schweizer U, Grueters A. Extended clinical phenotype, endocrine investigations and functional studies of a loss-of-function mutation A150V in the thyroid hormone specific transporter MCT8. Eur J Endocrinol 2005; 153: 359-66.
26. Crushell E, Reardon W. Elevated TSH levels in a mentally retarded boy. Eur J Pediatr 2010; 169: 573-5.
27. Wirth EK, Sheu SY, Chiu-Ugalde J, et al. Monocarboxylate transporter 8 deficiency: altered thyroid morphology and persistent high triiodothyronine/thyroxine ratio after thyroidectomy. Eur J Endocrinol 2011; 165: 555-61.
28. Ramos HE, Morandini M, Carre A, et al. Pregnancy in women heterozygous for MCT8 mutations: risk of maternal hypothyroxinemia and fetal care. EurJ Endocrinol 2011; 164: 309-14.
29. Wemeau JL, Pigeyre M, Proust-Lemoine E, et al. Beneficial effects of propylthiouracil plus L-thyroxine treatment in a patient with a mutation in MCT8. J Clin Endocrinol Metab 2008; 93: 2084-8.
30. Verge CF, Konrad D, Cohen M, et al. Diiodothyropropionic acid (DITPA) in the treatment of MCT8 deficiency. J Clin Endocrinol Metab 2012; 97: 4515-23.
31. Papadimitriou A, Dumitrescu AM, Papavasiliou A, Fretzayas A, Nicolaidou P, Refetoff S. A novel monocarboxylate transporter 8 gene mutation as a cause of severe neonatal hypotonia and developmental delay. Pediatrics 2008; 121: e199-202.
32. Sijens PE, Rodiger LA, Meiners LC, Lunsing RJ. 1H magnetic resonance spectroscopy in monocarboxylate transporter 8 gene deficiency. J Clin Endocrinol Metab 2008; 93: 1854-9.
33. Herzovich V, Vaiani E, Marino R, et al. Unexpected peripheral markers of thyroid function in a patient with a novel mutation of the MCT8 thyroid hormone transporter gene. Horm Res 2007; 67: 1-6.
34. Fuchs O, Pfarr N, Pohlenz J, Schmidt H. Elevated serum triiodothyronine and intellectual and motor disability with paroxysmal dyskinesia caused by a monocarboxylate transporter 8 gene mutation. Dev Med Child Neurol 2009; 51: 240-4.
35. Kakinuma H, Itoh M, Takahashi H. A novel mutation in the monocarboxylate transporter 8 gene in a boy with putamen lesions and low free T4 levels in cerebrospinal fluid. J Pediatr 2005; 147: 552-4.
36. Zung A, Visser TJ, Uitterlinden AG, Rivadeneira F, Friesema EC. A child with a deletion in the monocarboxylate transporter 8 gene: 7-year follow-up and effects of thyroid hormone treatment. Eur J Endocrinol 2011; 165: 823-30.
37. Filho HC, Marui S, Manna TD, et al. Novel mutation in MCT8 gene in a Brazilian boy with thyroid hormone resistance and severe neurologic abnormalities. Arq Bras Endocrinol Metabol 2011; 55: 60-6.
38. Horn S, Kersseboom S, Mayerl S, et al. Tetrac can replace thyroid hormone during brain development in mouse mutants deficient in the thyroid hormone transporter MCT8. Endocrinology 2013; 154: 968-79.
39. Dumitrescu AM, Refetoff S. The syndromes of reduced sensitivity to thyroid hormone. Biochim Biophys Acta 2013; 1830: 3987-4003.
40. Friesema EC, Visser WE, Visser TJ. Genetics and phenomics of thyroid hormone transport by MCT8. Mol Cell Endocrinol 2010; 322: 107-13.
41. Halestrap AP. The SLC16 gene family - Structure, role and regulation in health and disease. Mol Aspects Med 2013; 34: 337-49.
42. Kleinau G, Schweizer U, Kinne A, et al. Insights into molecular properties of the human monocarboxylate transporter 8 by combining functional with structural information. Thyroid Res 2011; 4(Suppl. 1): S4.
43. Schweizer U, Kohrle J. Function of thyroid hormone transporters in the central nervous system. Biochim Biophys Acta 2013; 1830: 3965-73.
44. Visser TJ. Thyroid hormone transporters and resistance. Endocr Dev 2013; 24: 1-10.
45. Visser WE, Friesema EC, Visser TJ. Minireview: thyroid hormone transporters: the knowns and the unknowns. Mol Endocrinol 2011; 25: 1-14.
46. Braun D, Wirth EK, Schweizer U. Thyroid hormone transporters in the brain. Rev Neurosci 2010; 21: 173-86.
47. Jansen J, Friesema EC, Kester MH, et al. Functional analysis of monocarboxylate transporter 8 mutations identified in patients with X-linked psychomotor retardation and elevated serum triiodothyronine. J Clin Endocrinol Metab 2007; 92: 2378-81.
48. Jansen J, Friesema EC, Kester MH, Schwartz CE, Visser TJ. Genotype-phenotype relationship in patients with mutations in thyroid hormone transporter MCT8. Endocrinology 2008; 149: 2184-90.
49. Anderson GW, Schoonover CM, Jones SA. Control of thyroid hormone action in the developing rat brain. Thyroid 2003; 13: 1039-56.
50. Bernal J. Thyroid hormones and brain development. Vitam Horm 2005; 71: 95-122.
51. Jones SA, Jolson DM, Cuta KK, Mariash CN, Anderson GW. Triiodothyronine is a survival factor for developing oligodendrocytes. Mol Cell Endocrinol 2003; 199: 49-60.
52. Younes-Rapozo V, Berendonk J, Savignon T, Manhaes AC, Barradas PC. Thyroid hormone deficiency changes the distribution of oligodendrocyte/myelin markers during oligodendroglial differentiation in vitro. Int J Dev Neurosci 2006; 24: 445-53.
53. Heuer H, Visser TJ. The pathophysiological consequences of thyroid hormone transporter deficiencies: Insights from mouse models. Biochim Biophys Acta 2013; 1830: 3974-8.
54. Vatine GD, Zada D, Lerer-Goldshtein T, et al. Zebrafish as a model for monocarboxyl transporter 8-deficiency. J Biol Chem 2013; 288: 169-80.
55. Dumitrescu AM, Liao XH, Weiss RE, Millen K, Refetoff S. Tissue-specific thyroid hormone deprivation and excess in monocarboxylate transporter (mct) 8-deficient mice. Endocrinology 2006; 147: 4036-43.
56. Trajkovic M, Visser TJ, Mittag J, et al. Abnormal thyroid hormone metabolism in mice lacking the monocarboxylate transporter 8. J Clin Invest 2007; 117: 627-35.
57. Pincus JH, Chutorian A. Familial benign chorea with intention tremor: a clinical entity. J Pediatr 1967; 70: 724-9.
58. Gras D, Jonard L, Roze E, et al. Benign hereditary chorea: phenotype, prognosis, therapeutic outcome and long term follow-up in a large series with new mutations in the TITF1/NKX2-1 gene. J Neurol Neurosurg Psychiatry 2012; 83: 956-62.
59. Carre A, Szinnai G, Castanet M, et al. Five new TTF1/NKX2.1 mutations in brain-lung-thyroid syndrome: rescue by PAX8 synergism in one case. Hum Mol Genet 2009; 18: 2266-76.
60. Peall KJ, Lumsden D, Kneen R, et al. Benign hereditary chorea related to NKX2.1: expansion of the genotypic and phenotypic spectrum. Dev Med Child Neurol 2013; DOI: 10.1111/dmcn.12323. [Epub ahead of print]
61. Schady W, Meara RJ. Hereditary progressive chorea without dementia. J Neurol Neurosurg Psychiatry 1988; 51: 295-7.
62. Asmus F, Langseth A, Doherty E, et al. "Jerky" dystonia in children: spectrum of phenotypes and genetic testing. Mov Disord 2009; 24: 702-9.
63. Chun RW, Daly RF, Mansheim BJ Jr, Wolcott GJ. Benign familial chorea with onset in childhood. JAMA 1973; 225: 1603-7.
64. Bird TD, Carlson CB, Hall JG. Familial essential ("benign") chorea. J Med Genet 1976; 13: 357-62.
65. Glik A, Vuillaume I, Devos D, Inzelberg R. Psychosis, short stature in benign hereditary chorea: a novel thyroid transcription factor-1 mutation. Mov Disord 2008; 23: 1744-7.
66. Devos D, Vuillaume I, de Becdelievre A, et al. New syndromic form of benign hereditary chorea is associated with a deletion of TITF-1 and PAX-9 contiguous genes. Mov Disord 2006; 21: 2237-40.
67. Ferrara AM, De Michele G, Salvatore E, et al. A novel NKX2.1 mutation in a family with hypothyroidism and benign hereditary chorea. Thyroid 2008; 18: 1005-9.
68. Iwatani N, Mabe H, Devriendt K, Kodama M, Miike T. Deletion of NKX2.1 gene encoding thyroid transcription factor-1 in two siblings with hypothyroidism and respiratory failure. J Pediatr 2000; 137: 272-6.
69. Inzelberg R, Weinberger M, Gak E. Benign hereditary chorea: an update. Parkinsonism Relat Disord 2011; 17: 301-7.
70. Maccabelli G, Pichiecchio A, Guala A, et al. Advanced magnetic resonance imaging in benign hereditary chorea: study of two familial cases. Mov Disord 2010; 25: 2670-4.
71. Salvatore E, Di Maio L, Filla A, et al. Benign hereditary chorea: clinical and neuroimaging features in an Italian family. Mov Disord 2010; 25: 1491-6.
72. Mahajnah M, Inbar D, Steinmetz A, Heutink P, Breedveld GJ, Straussberg R. Benign hereditary chorea: clinical, neuroimaging, and genetic findings. J Child Neurol 2007; 22: 1231-4.
73. Asmus F, Horber V, Pohlenz J, et al. A novel TITF-1 mutation causes benign hereditary chorea with response to levodopa. Neurology 2005; 64: 1952-4.
74. Fons C, Rizzu P, Garcia-Cazorla A, et al. TITF-1 gene mutation in a case of sporadic non-progressive chorea. Response to levodopa treatment. Brain Dev 2012; 34: 255-7.
75. Nakamura K, Sekijima Y, Nagamatsu K, Yoshida K, Ikeda S. A novel nonsense mutation in the TITF-1 gene in a Japanese family with benign hereditary chorea. J Neurol Sci 2012; 313: 189-92.
76. de Vries BB, Arts WF, Breedveld GJ, Hoogeboom JJ, Niermeijer MF, Heutink P. Benign hereditary chorea of early onset maps to chromosome 14q. Am J Hum Genet 2000; 66: 136-42.
77. Breedveld GJ, van Dongen JW, Danesino C, et al. Mutations in TITF-1 are associated with benign hereditary chorea. Hum Mol Genet 2002; 11: 971-9.
78. Lazzaro D, Price M, de Felice M, Di Lauro R. The transcription factor TTF-1 is expressed at the onset of thyroid and lung morphogenesis and in restricted regions of the foetal brain. Development 1991; 113: 1093-104.
79. Provenzano C, Veneziano L, Appleton R, Frontali M, Civitareale D. Functional characterization of a novel mutation in TITF-1 in a patient with benign hereditary chorea. J Neurol Sci 2008; 264: 56-62.
80. Kimura S, Hara Y, Pineau T, et al. The T/ebp null mouse: thyroid-specific enhancer-binding protein is essential for the organogenesis of the thyroid, lung, ventral forebrain, and pituitary. Genes Dev 1996; 10: 60-9.
81. Sussel L, Marin O, Kimura S, Rubenstein JL. Loss of Nkx2.1 homeobox gene function results in a ventral to dorsal molecular respecification within the basal telencephalon: evidence for a transformation of the pallidum into the striatum. Development 1999; 126: 3359-70.