Early clinical course after hematopoietic stem cell transplantation in children with juvenile metachromatic leukodystrophy

In this study, the clinical course was evaluated over the first 24 months following HSCT, conducted at our center in 12 children with juvenile MLD (mean follow-up 6.75 years, range 3 –13.5) and compared with 35 non-transplanted children with juvenile MLD. Motor function (GMFM-88 and GMFC-MLD), cognitive function (FSIQ), peripheral neuropathy (tibial nerve conduction velocity), and cerebral changes (MLD-MR severity score) were tested prospectively.Seven children remained neurologically stable over a long period, five exhibited rapid disease progression over the first 12 to 18 months after transplantation. In the latter, time from first gross motor symptoms to loss of independent walking was significantly shorter compared with non-transplanted patients at the same stage of disease (p
Source: Molecular and Cellular Pediatrics - Category: Cytology Source Type: research

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Metachromatic leukodystrophy (MLD) is an autosomal recessively inherited metabolic disease characterized by deficient activity of the lysosomal enzyme arylsulfatase A. Its deficiency results in accumulation of...
Source: Orphanet Journal of Rare Diseases - Category: Internal Medicine Authors: Tags: Review Source Type: research
Conclusion: This study highlights the utility of NCS and advanced magnetic resonance imaging sequences in the diagnosis of MLD.
Source: Journal of Pediatric Neurosciences - Category: Neuroscience Authors: Source Type: research
Publication date: Available online 23 May 2017Source: Neuroscience LettersAuthor(s): Charles K. AbramsAbstractConnexins are a family of integral membrane proteins most of which form gap junctions and many of which form hemichannels as well. Mutations in at least 9 of the 21 genes encoding human connexin proteins cause human diseases. Mutations in GJB1 (Cx32), expressed in both Schwann cells and oligodendrocytes, cause both a form of inherited peripheral neuropathy and a variety of CNS symptoms. Mutations in GJC2 (Cx47), expressed in oligodendrocytes cause three disorders: a severe early onset dysmyelinating disorder, Peliz...
Source: Neuroscience Letters - Category: Neuroscience Source Type: research
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Source: Muscle and Nerve - Category: Internal Medicine Authors: Tags: Noteworthy Case Source Type: research
Publication date: Available online 23 May 2017 Source:Neuroscience Letters Author(s): Charles K. Abrams Connexins are a family of integral membrane proteins most of which form gap junctions and many of which form hemichannels as well. Mutations in at least 9 of the 21 genes encoding human connexin proteins cause human diseases. Mutations in GJB1 (Cx32), expressed in both Schwann cells and oligodendrocytes, cause both a form of inherited peripheral neuropathy and a variety of CNS symptoms. Mutations in GJC2 (Cx47), expressed only in oligodendrocytes within the nervous system, cause a severe early onset dysmyelinating disor...
Source: Neuroscience Letters - Category: Neuroscience Source Type: research
Conclusions We report here the first patient carrying pathogenic mutations of COA7, causative of isolated COX deficiency and progressive neurological impairment. We also show that COA7 is a soluble protein localized to the matrix, rather than in the intermembrane space as previously suggested.
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Open access, Genetic screening / counselling, Molecular genetics, Neuromuscular disease, Peripheral nerve disease, Memory disorders (psychiatry) Mitochondrial genetics Source Type: research
Conclusions: Bi-allelic HMBS variants have been reported before as cause of severe encephalopathy with early childhood fatality in acute intermittent porphyria. Our cases demonstrate childhood onset, but milder and slower disease progression in middle-aged patients. With this, a novel phenotype can be added to the disease spectrum associated with bi-allelic HMBS variants: a leukoencephalopathy with early onset, slowly progressive neurologic symptomatology, and long life expectancy.
Source: Neurology - Category: Neurology Authors: Tags: MRI, Leukodystrophies ARTICLE Source Type: research
Conclusions Homozygosity for the p.E33G mutation in the ACER3 gene results in inactivation of ACER3, leading to the accumulation of various sphingolipids in blood and probably in brain, likely accounting for this new form of childhood leukodystrophy.
Source: Journal of Medical Genetics - Category: Genetics & Stem Cells Authors: Tags: Genetic screening / counselling, Neuromuscular disease, Peripheral nerve disease, Epidemiology New loci Source Type: research
Abstract Pelizaeus-Merzbacher disease (PMD) is X-linked hypomyelinating leukodystrophy caused by mutations of the PLP1 gene, which codes the proteolipid protein 1. The result of mutations is abnormal myelination - hypomyelination and dysmyelination of cerebral white matter, and in some form of the disease hypomyelinating peripheral neuropathy. DNA samples from 68 patients suspected of PMD due to the clinical course and hypomyelination at magnetic resonance imaging (MRI) were analyzed. Medical history and detailed clinical course of PMD patients were also analyzed. Different mutations of the PLP1 gene were detected...
Source: Folia Neuropathologica - Category: Pathology Authors: Tags: Folia Neuropathol Source Type: research
CONCLUSION: This disease has a progressive and almost unvarying course, which is the clinical key to be able to differentiate it from other entities such as infantile cerebral palsy, peripheral neuropathies or multiple sclerosis, among others, in addition to the characteristic neuroimaging findings. It is necessary to suspect this diagnosis and confirm alterations in the PLP1 gene with the aim of obtaining a real incidence of this entity, which is probably underestimated, like other leukodystrophies. PMID: 27113066 [PubMed - in process]
Source: Revista de Neurologia - Category: Neurology Authors: Tags: Rev Neurol Source Type: research
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