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Acta Neurologica Belgica
Published in: Acta Neurologica Belgica 4/2019

01-12-2019 | Spinal Muscular Atrophy | Review article

Clinical approach to neurodegenerative disorders in childhood: an updated overview

Author: Mario Mastrangelo

Published in: Acta Neurologica Belgica | Issue 4/2019

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Abstract

Neurodegenerative disorders include a group of severe diseases that share a core including a gradual loss of previously acquired motor, sensory and cognitive functions. In pediatric age, the main diagnostic issues are the discrimination between the loss of previously acquired competencies and the lack of achievement of specific developmental milestones. An ideal classification of these disorders could be based on the combination of genetic, clinical and neuroimaging features. Diagnostic workup should be organized with a special attention to the few diseases with an available and effective therapeutic treatment. The present paper reports a proposal of classification that is based on the prominently involved structure and summarizes the hallmarks for clinical approach and therapeutic management.
Literature
1.
Kovacs GG (2017) Concepts and classification of neurodegenerative diseases. Handb Clin Neurol 145:301–307PubMedCrossRef
2.
Jan MM (2002) Clinical approach to children with suspected neurodegenerative disorders. Neurosciences (Riyadh) 7:2–6
3.
Waldman AT (2018) Leukodystrophies. Continuum (Minneap Minn) 24:130–149
4.
5.
van der Knaap MS, Bugiani M (2017) Leukodystrophies: a proposed classification system based on pathological changes and pathogenetic mechanisms. Acta Neuropathol 134:351–382PubMedPubMedCentralCrossRef
6.
Parikh S, Bernard G, Leventer RJ, van der Knaap MS, van Hove J, Pizzino A et al (2015) A clinical approach to the diagnosis of patients with leukodystrophies and genetic leukoencephalopathies. Mol Genet Metab 114:501–515PubMedCrossRef
7.
Bonkowsky JL, Nelson C, Kingston JL, Filloux FM, Mundorff MB, Srivastava R (2010) The burden of inherited leukodystrophies in children. Neurology 75:718–725PubMedPubMedCentralCrossRef
8.
Charzewska A, Wierzba J, Iżycka-Świeszewska E, Bekiesińska-Figatowska M, Jurek M, Gintowt A et al (2016) Hypomyelinating leukodystrophies—a molecular insight into the white matter pathology. Clin Genet 90:293–304PubMedCrossRef
9.
10.
Helbig I, von Deimling M, Marsh ED (2017) Epileptic encephalopathies as neurodegenerative disorders. Adv Neurobiol 15:295–315PubMedCrossRef
11.
Scheffer IE, Berkovic S, Capovilla G, Connolly MB, French J, Guilhoto L et al (2017) ILAE classification of the epilepsies: position paper of the ILAE commission for classification and terminology. Epilepsia 58:512–521PubMedPubMedCentralCrossRef
12.
Parrini E, Marini C, Mei D, Galuppi A, Cellini E, Pucatti D et al (2017) Diagnostic targeted resequencing in 349 patients with drug-resistant pediatric epilepsies identifies causative mutations in 30 different genes. Hum Mutat 38:216–222PubMedCrossRef
13.
Gokben S, Onay H, Yilmaz S, Atik T, Serdaroglu G, Tekin H et al (2017) Targeted next generation sequencing: the diagnostic value in early-onset epileptic encephalopathy. Acta Neurol Belg 117:131–138PubMedCrossRef
14.
15.
Geberhiwot T, Moro A, Dardis A, Ramaswami U, Sirrs S, Marfa MP et al (2018) International Niemann-Pick Disease Registry (INPDR). Consensus clinical management guidelines for Niemann-Pick disease type C. Orphanet J Rare Dis 13:50PubMedPubMedCentralCrossRef
16.
Cao J, Wu H, Li Z (2018) Recent perspectives of pediatric mitochondrial diseases. Exp Ther Med 15:13–18PubMed
17.
Mizuguchi T, Nakashima M, Kato M, Yamada K, Okanishi T, Ekhilevitch N et al (2017) PARS2 and NARS2 mutations in infantile-onset neurodegenerative disorder. J Hum Genet 62:525–529PubMedCrossRef
18.
Flor-de-Lima F, Sampaio M, Nahavandi N, Fernandes S, Leão M (2014) Alsin related disorders: literature review and case study with novel mutations. Case Rep Genet 691515
19.
de Souza PVS, de Rezende Pinto WBV, de Rezende Batistella GN, Bortholin T, Oliveira ASB (2017) Hereditary spastic paraplegia: clinical and genetic hallmarks. Cerebellum 16:525–551PubMedCrossRef
20.
Lo Giudice T, Lombardi F, Santorelli FM, Kawarai T, Orlacchio A (2014) Hereditary spastic paraplegia: clinical-genetic characteristics and evolving molecular mechanisms. Exp Neurol 261:518–539PubMedCrossRef
21.
Di Meo I, Tiranti V (2018) Classification and molecular pathogenesis of NBIA syndromes. Eur J Paediatr Neurol 22:272–284PubMedCrossRef
22.
Salomão RP, Pedroso JL, Gama MT, Dutra LA, Maciel RH, Godeiro-Junior C et al (2016) A diagnostic approach for neurodegeneration with brain iron accumulation: clinical features, genetics and brain imaging. Arq Neuropsiquiatr 74:587–596CrossRefPubMed
23.
Inge A (2018) Meijer and Toni Pearson, the twists of pediatric dystonia: phenomenology, classification, and genetics. Semin Pediatr Neurol 25:65–74CrossRef
24.
Kim SD, Fung VS (2014) An update on Huntington’s disease: from the gene to the clinic. Curr Opin Neurol 27:477–483PubMedCrossRef
25.
Peikert K, Danek A, Hermann A (2017) Current state of knowledge in Chorea-Acanthocytosis as core Neuroacanthocytosis syndrome. Eur J Med Genet S1769–7212(17):30591–30598
26.
Lal D, Becker K, Motameny S, Altmüller J, Thiele H, Nürnberg P et al (2013) Homozygous missense mutation of NDUFV1 as the cause of infantile bilateral striatal necrosis. Neurogenetics 14:85–87PubMedCrossRef
27.
Baertling F, Rodenburg RJ, Schaper J, Smeitink JA, Koopman WJ et al (2014) A guide to diagnosis and treatment of Leigh syndrome. J Neurol Neurosurg Psychiatry 85:257–265PubMedCrossRef
28.
Namavar Y, Barth PG, Poll-The BT, Baas F (2011) Classification, diagnosis and potential mechanisms in pontocerebellar hypoplasia. Orphanet J Rare Dis 6:50PubMedPubMedCentralCrossRef
29.
Venkatesh SD, Kandasamy M, Moily NS, Vaidyanathan R, Kota LN, Adhikarla S et al (2018) Genetic testing for clinically suspected spinocerebellar ataxias: report from a tertiary referral centre in India. J Genet 97:219–224PubMedCrossRef
30.
31.
Whitehouse WP (2017) Multidisciplinary care of children and young people with ataxia-telangiectasia. Dev Med Child Neurol 59:670PubMedCrossRef
32.
Krieger M, Roos A, Stendel C, Claeys KG, Sonmez FM, Baudis M et al (2013) SIL1 mutations and clinical spectrum in patients with Marinesco-Sjogren syndrome. Brain 136(Pt 12):3634–3644PubMedCrossRef
33.
Mercuri E, Finkel RS, Muntoni F, Wirth B, Montes J, Main M et al (2018) Diagnosis and management of spinal muscular atrophy: part 1: recommendations for diagnosis, rehabilitation, orthopedic and nutritional care. Neuromuscul Disord 28:103–115PubMedCrossRef
34.
Baets J, Deconinck T, De Vriendt E et al (2011) Genetic spectrum of hereditary neuropathies with onset in the first year of life. Brain 134(Pt 9):2664–2676PubMedPubMedCentralCrossRef
35.
Orssaud C, Robert MP, Bremond Gignac D (2018) Hereditary optic neuropathies in pediatric ophthalmology. J Fr Ophtalmol 41(5):402–406PubMedCrossRef
36.
Carter JC, Sheehan DW, Prochoroff A, Birnkrant DJ (2018) Muscular dystrophies. Clin Chest Med 39:377–389PubMedCrossRef
37.
Gutierrez J, Issacson RS, Koppel BS (2010) Subacute sclerosing panencephalitis: an update. Dev Med Child Neurol 52:901–907PubMedCrossRef
38.
Wilmshurst JM, Hammond CK, Donald K, Hoare J, Cohen K, Eley B (2018) NeuroAIDS in children. Handb Clin Neurol 152:99–116PubMedCrossRef
39.
Thompson AJ, Baranzini SE, Geurts J, Hemmer B, Ciccarelli O (2018) Multiple sclerosis. Lancet 391:1622–1636PubMedCrossRef
40.
41.
Berry-Kravis E, Chin J, Hoffmann A, Winston A, Stoner R, LaGorio L et al (2018) Long-term treatment of Niemann-Pick type C1 disease with intrathecal 2-hydroxypropyl-β-cyclodextrin. Pediatr Neurol 80:24–34PubMedPubMedCentralCrossRef
42.
Maljevic S, Reid CA, Petrou S (2017) Models for discovery of targeted therapy in genetic epileptic encephalopathies. J Neurochem 143(1):30–48PubMedCrossRef
43.
Schulz A, Ajayi T, Specchio N, de Los Reyes E, Gissen P, Ballon D et al (2018) CLN2 Study Group. Study of intraventricular cerliponase alfa for CLN2 disease. N Engl J Med 378:1898–1907PubMedCrossRef
44.
Chessa L, Leuzzi V, Plebani A, Soresina A, Micheli R, D’Agnano D et al (2014) Intra-erythrocyte infusion of dexamethasone reduces neurological symptoms in ataxia telangiectasia patients: results of a phase 2 trial. Orphanet J Rare Dis 9:5PubMedPubMedCentralCrossRef
45.
Leuzzi V, Micheli R, D’Agnano D, Molinaro A, Venturi T, Plebani A et al (2015) Positive effect of erythrocyte-delivered dexamethasone in ataxia-telangiectasia. Neurol Neuroimmunol Neuroinflamm 2(3):e98PubMedPubMedCentralCrossRef
46.
Biffi A, Montini E, Lorioli L, Cesani M, Fumagalli F, Plati T et al (2013) Lentiviral hematopoietic stem cell gene therapy benefits metachromatic leukodystrophy. Science 341:1233158PubMedCrossRef
47.
48.
Bailey RM, Armao D, Nagabhushan Kalburgi S, Gray SJ (2018) Development of intrathecal AAV9 gene therapy for giant axonal neuropathy. Mol Ther Methods Clin Dev 9:160–171PubMedPubMedCentralCrossRef
49.
Georgiou E, Sidiropoulou K, Richter J, Papaneophytou C, Sargiannidou I, Kagiava A et al (2017) Gene therapy targeting oligodendrocytes provides therapeutic benefit in a leukodystrophy model. Brain 140(3):599–616PubMedPubMedCentral
50.
Finkel RS, Mercuri E, Darras BT, Connolly AM, Kuntz NL, Kirschner J et al (2017) ENDEAR Study Group. Nusinersen versus sham control in infantile-onset spinal muscular atrophy. N Engl J Med 377:1723–1732PubMedCrossRef
51.
McDonald CM, Campbell C, Torricelli RE, Finkel RS, Flanigan KM, Goemans N et al (2017) Ataluren in patients with nonsense mutation Duchenne muscular dystrophy (ACT DMD): a multicentre, randomised, double-blind, placebo-controlled, phase 3 trial. Lancet 390(10101):1489–1498PubMedCrossRef
52.
Charleston JS, Schnell FJ, Dworzak J, Donoghue C, Lewis S, Chen L et al (2018) Eteplirsen treatment for Duchenne muscular dystrophy: exon skipping and dystrophin production. Neurology 90:e2146–e2154PubMedCrossRef
53.
Hagemann TL, Powers B, Mazur C, Kim A, Wheeler S, Hung G et al (2018) Antisense suppression of glial fibrillary acidic protein as a treatment for Alexander disease. Ann Neurol 83(1):27–39PubMedPubMedCentralCrossRef
54.
55.
Hughes MP, Smith DA, Morris L, Fletcher C, Colaco A, Huebecker M et al (2018) AAV9 intracerebroventricular gene therapy improves lifespan, locomotor function and pathologyin a mouse model of Niemann-Pick type C1 disease. Hum Mol Genet 27:3079–3098PubMedPubMedCentralCrossRef
56.
Zhang Y, Tian Z, Yuan J, Liu C, Liu HL, Ma SQ et al (2017) The progress of gene therapy for Leber’s optic hereditary neuropathy. Curr Gene Ther 17:320–326PubMed
Metadata
Title
Clinical approach to neurodegenerative disorders in childhood: an updated overview
Author
Mario Mastrangelo
Publication date
01-12-2019
Publisher
Springer International Publishing
Published in
Acta Neurologica Belgica / Issue 4/2019
Print ISSN: 0300-9009
Electronic ISSN: 2240-2993
DOI
https://doi.org/10.1007/s13760-019-01160-0

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