Hypomyelination with atrophy of the basal ganglia and cerebellum

Knaap, Marjo S. van der; Linnankivi, Tarja; Paetau, Anders; Feigenbaum, Annette; Wakusawa, Keisuke; Haginoya, Kazuhiro; Köhler, Wolfgang; Henneke, Marco; Dinopoulos, A.; Grattan-Smith, Padraic J.; Brockmann, Knut; Schiffmann, Raphael; Blasér, Susan

doi:10.1212/01.wnl.0000265592.74483.a6

Cited by 49 publications

(39 citation statements)

References 13 publications

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“…8,14,15 If there is very little or no myelin, the signal of the cerebral white matter is lower than that of gray matter structures on T1W images (figure 3E). If there is some myelin, the white matter is isointense with gray matter structures (figure 3F).…”

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confidence: 99%

“…In all cases, the cerebral white matter has a moderately elevated signal on T2W images (figure 3, A-D). 8,14,15 Consequently, T1W images generally look better, suggesting more myelin, than T2W images in hypomyelination and delayed myelination. In all white matter pathologies other than deficient myelination, the signal changes are as a rule more prominent: the affected white matter has a much higher signal on T2W images and a much lower signal on T1W images than gray matter structures (figure 4 and figures e-2 and e-3).…”

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confidence: 99%

“…Delayed myelination is a nonspecific feature observed in almost all children with a delayed development of any cause, 16 whereas permanent hypomyelination comes with a specific differential diagnosis, as explained in figure 1. 15 The differentiation between delayed myelination and permanent hypomyelination can be made by two MRIs with a significant time interval. Normal myelination occurs mainly in the first 2 years of life.…”

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confidence: 99%

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Invited Article: An MRI-based approach to the diagnosis of white matter disorders

Schiffmann¹,

Knaap²

2009

Neurology

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Background:There are many different white matter disorders, both inherited and acquired, and consequently the diagnostic process is difficult. Establishing a specific diagnosis is often delayed at great emotional and financial costs. The pattern of brain structures involved, as visualized by MRI, has proven to often have a high diagnostic specificity. Methods:We developed a comprehensive practical algorithm that relies mainly on the characteristics of brain MRI. Results:The initial decision point defines a hypomyelination pattern, in which the cerebral white matter is hyperintense (normal), isointense, or slightly hypointense relative to the cortex on T1-weighted images, vs other pathologies with more prominent hypointensity of the cerebral white matter on T1-weighted images. In all types of pathology, the affected white matter is hyperintense on T2-weighted images, but, as a rule, the T2 hyperintensity is less marked in hypomyelination than in other pathologies. Some hypomyelinating disorders are typically associated with peripheral nerve involvement, while others are not. Lesions in patients with pathologies other than hypomyelination can be either confluent or isolated and multifocal. Among the diseases with confluent lesions, the distribution of the abnormalities is of high diagnostic value. Additional MRI features, such as white matter rarefaction, the presence of cysts, contrast enhancement, and the presence of calcifications, further narrow the diagnostic possibilities. White matter disorders or leukoencephalopathies comprise all disorders that exclusively or predominantly affect the white matter of the brain. Leukodystrophies are genetically determined leukoencephalopathies. There are many different leukoencephalopathies, which can occur at all ages, be progressive or static, and be genetic or acquired. Conclusion:1,2 The diagnostic workup is complicated. Many tests are performed, at high financial and emotional costs and often with disappointing results. 3MRI has proven to be pivotal in the diagnostic workup of patients with leukoencephalopathies.2 First, the presence of white matter abnormalities is usually established with MRI. CT may show white matter hypodensity, but it is much less sensitive than MRI and gives no details. Secondly, it has been shown repeatedly that individual leukoencephalopathies present themselves with distinct patterns of MRI abnormalities, which are homogeneous among patients with the same disorder and different in patients with different disorders, indicating the high diagnostic value of MRI patterns.

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Invited Article: An MRI-based approach to the diagnosis of white matter disorders

Schiffmann¹,

Knaap²

2009

Neurology

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429

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“…Plasma cholestanol, MG [43] Chromosome 18q deletion syndrome 18q-601808 Multiple malformations Chromosomes [44] Congenital disorders of glycosylation CDG Heterogeneous group of disorders Atypical transferrins in blood (in some patients) [45] Cystical leukoencephalopathy without megalencephaly CYS 612951 RNASET2 MRI: cystic lesions MG [46] Folate receptor defect FOL 136430 FOLRI1 MRI: hypomyelination CSF folate low [47] Fucosidosis FUC 230000 FUCA1 Coarse facial features, MRI: hypomyelination Fucosidase [48] Giant axonal neuropathy type I GAN 256850 GAN Curly hair, PNS involved MG [49] Globoid leukodystrophy (Krabbe disease) GLD 245200 GALC Rapid downhill course in previously normal infant, PNS involved, milder juvenile forms Galactocerebrosidase [50] Glycine leukoencephalopathy GLY MRI: rapidly progressive vacuolating encephalopathy CSF glycine [51] Hypomyelination with atrophy of the basal ganglia and cerebellum H-ABC 612438 MRI: hypomyelination, characteristic anatomic pattern [52] Hypomyelination and congenital cataract HCC 610532 FAM126A MRI: hypomyelination, cataracts and possible PNS involvement MG [53] Hypomyelination, hypodontia, hypogonadotropic hypogonadism HHHH 612440 Tooth anomalies, retarded puberty, MRI: hypomyelination Endocrinological studies [54] Hypomyelination with monocarboxylate transporter 8 deficiency H-MCT8 300523 SLC16A2 MRI: hypomyelination, abnormal thyroid function (T3 resistance) MG [55] Hypomyelination with tremor and ataxia TACH Regression starts at age 1-5 years [56] Infantile neuroaxonal dystrophy INAD 256600 PLA2G6 PNS involved MG [57] Leukoencephalopathy …”

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confidence: 99%

Childhood leukodystrophies: a clinical perspective

Kohlschütter¹,

Eichler²

2011

Expert Review of Neurotherapeutics

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“…Low Cho levels are indicative of hypomyelination due to decreased membrane synthesis and turnover. In a new syndrome characterized by Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum (H-ABC), MI and Cr levels are found to be elevated in the cerebral white matter, while NAA and choline levels are normal (53). These findings suggest that neither axonal loss nor active demyelination occurs in the setting of gliosis.…”

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confidence: 93%