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Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1
Aicardi–Goutières syndrome is an inflammatory disease occurring due to mutations in any of TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR or IFIH1. We report on 374 patients from 299 families withExpand
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Clinical and biochemical features of aromatic L-amino acid decarboxylase deficiency
Objective: To describe the current treatment; clinical, biochemical, and molecular findings; and clinical follow-up of patients with aromatic l-amino acid decarboxylase (AADC) deficiency. Method:Expand
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A de novo mutation in the β-tubulin gene TUBB4A results in the leukoencephalopathy hypomyelination with atrophy of the basal ganglia and cerebellum.
Hypomyelination with atrophy of the basal ganglia and cerebellum (H-ABC) is a rare hereditary leukoencephalopathy that was originally identified by MRI pattern analysis, and it has thus far defiedExpand
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Case definition and classification of leukodystrophies and leukoencephalopathies.
OBJECTIVE An approved definition of the term leukodystrophy does not currently exist. The lack of a precise case definition hampers efforts to study the epidemiology and the relevance of geneticExpand
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Recessive mutations in POLR3B, encoding the second largest subunit of Pol III, cause a rare hypomyelinating leukodystrophy.
Mutations in POLR3A encoding the largest subunit of RNA polymerase III (Pol III) were found to be responsible for the majority of cases presenting with three clinically overlapping hypomyelinatingExpand
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Time‐course of myelination and atrophy on cerebral imaging in 35 patients with PLP1‐related disorders
Brain magnetic resonance imaging (MRI) motor development score (MDS) correlations were used to analyze the natural time‐course of hypomyelinating PLP1‐related disorders (Pelizaeus‐Merzbacher diseaseExpand
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Characteristic brain magnetic resonance imaging pattern in patients with macrocephaly and PTEN mutations
We describe an MRI phenotype seen in a series of patients with mutations in PTEN who have clinical features consistent with PTEN hamartoma tumor syndrome (PHTS). Retrospective review of clinical dataExpand
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COL4A1 mutations associated with a characteristic pattern of intracranial calcification.
Intracranial calcification (ICC) is a relatively common radiological finding in children undergoing investigation for neurological disorders. Many causes are recognised, and ICC is often regarded asExpand
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New case of 4H syndrome and a review of the literature.
Different pathologic processes (especially demyelination, hypomyelination, and combinations of these) may underlie leukoencephalopathies. Leukoencephalopathies pose a particular diagnostic problemExpand
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Spinal Cord Calcification in an Early-Onset Progressive Leukoencephalopathy
Spinal cord calcifications are an unusual finding in pediatric neurology. We here describe a young child who presented severe psychomotor delay, tetraplegia, deafness, and anemia. NeuroradiologicalExpand
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