Phenotypic characterization of hypomyelination and congenital cataract

Biancheri, Roberta; Zara, Federico; Bruno, Claudio; Rossi, Andrea; Bordo, Laura; Gazzerro, Elisabetta; Sotgia, Federica; Pedemonte, Marina; Scapolan, Sara; Bado, M.; Uziel, Graziella; Bugiani, Marianna; Lamba, L. Doria; Costa, Valéria Catelli Infantozzi; Schenone, Angelo; Rozemüller, Annemieke; Tortori-Donati, Paolo; Lisanti, Michael P.; Knaap, Marjo S. van der; Minetti, Carlo

doi:10.1002/ana.21175

Cited by 42 publications

(37 citation statements)

References 27 publications

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“…In addition, intriguing possibility of modulation of conduction velocity by oligodendrocytes has been reported recently (Yamazaki et al, 2007). Altered conduction velocity has been implicated in various neurological and psychiatric disorders (Biancheri et al 2007; Defrin et al 2004; el-Mallakh et al 1996; Soontarapornchai et al 2008). There has been some evidence for altered conduction velocity in patients with schizophrenia(Thaker 2008).…”

Section: Oligodendrocyte and Myelin Dysfunction Leads To Altered Smentioning

confidence: 99%

Linking oligodendrocyte and myelin dysfunction to neurocircuitry abnormalities in schizophrenia

Takahashi

Sakurai

Davis

et al. 2011

Progress in Neurobiology

294

220

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Multiple lines of evidence in schizophrenia, from brain imaging, studies in postmortem brains, and genetic association studies, have implicated oligodendrocyte and myelin dysfunction in this disease. Recent studies suggest that oligodendrocyte and myelin dysfunction leads to changes in synaptic formation and function, which could lead to cognitive dysfunction, a core symptom of schizophrenia. Furthermore, there is accumulating data linking oligodendrocyte and myelin dysfunction with dopamine and glutamate abnormalities, both of which are found in schizophrenia. These findings implicate oligodendrocyte and myelin dysfunction as a primary change in schizophrenia, not only as secondary consequences of the illness or treatment. Strategies targeting oligodendrocyte and myelin abnormalities could therefore provide therapeutic opportunities for patients suffering from schizophrenia.

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Section: Oligodendrocyte and Myelin Dysfunction Leads To Altered Smentioning

confidence: 99%

Linking oligodendrocyte and myelin dysfunction to neurocircuitry abnormalities in schizophrenia

Takahashi

Sakurai

Davis

et al. 2011

Progress in Neurobiology

294

220

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“…Other causes include HLD5 (leukodystrophy, hypomyelination and congenital cataracts),50 congenital disorders of glycosylation (recessive PMM2 mutations),51 Andermann’s syndrome (agenesis of the corpus callosum and peripheral neuropathy),52 Cockayne syndrome,53 Leigh’s syndrome due to SURF1 and MFF mutations,54 55 the complex infantile-onset IMNEPD (complex neurodegeneration in the context of hearing loss and pancreatic insufficiency)56 and Aicardi-Goutières syndrome which is an inflammatory disease that presents as an inflammatory syndrome and may respond partially to immunosuppression 57…”

Section: Introductionmentioning

confidence: 99%

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

Rossor

Carr

Devine

et al. 2017

J Neurol Neurosurg Psychiatry

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Peripheral neuropathy is a common finding in patients with complex inherited neurological diseases and may be subclinical or a major component of the phenotype. This review aims to provide a clinical approach to the diagnosis of this complex group of patients by addressing key questions including the predominant neurological syndrome associated with the neuropathy e.g. spasticity, the type of neuropathy, and the other neurological and nonneurological features of the syndrome. Priority is given to the diagnosis of treatable conditions. Using this approach, we associated neuropathy with one of three major syndromic categories -1) ataxia, 2) spasticity, and 3) global neurodevelopmental impairment. Syndromes that do not fall easily into one of these three categories can be grouped according to the predominant system involved in addition to the neuropathy e.g. cardiomyopathy and neuropathy. We also include a separate category of complex inherited relapsing neuropathy syndromes, some of which may mimic Guillain Barré syndrome, as many will have a metabolic aetiology and be potentially treatable.

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“…Several hypomyelinating diseases are well known, such as Pelizaeus-Merzbacher disease, Salla disease, Cockayne syndrome type II, Tay syndrome, a recently discovered new entity named "Hypomyelination with Atrophy of the Basal Ganglia and Cerebellum" (H-ABC), spastic paraplegia type 2 (SPG2), 18 q syndrome, hypomyelination with congenital cataracts (HCC), hypomyelination with trichothiodistrophy 11, 12,13,14 .…”

Section: Discussionmentioning

confidence: 99%

Type a Niemann-Pick Disease

et al. 2008

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We describe three patients with type A Niemann-Pick disease (NPD-A). NPD-A is an autosomal recessive neuronal storage disease classified among the sphingolipidoses, characterized by accumulation of sphingomyelin in various tissues and in the brain. Magnetic Resonance imaging (MRI) of our three patients showed a marked delay of myelination with frontal atrophy. Few descriptions of this MRI pattern of delayed myelination have been published to date.

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Phenotypic characterization of hypomyelination and congenital cataract

Abstract: Hypomyelination and congenital cataract is a novel autosomal recessive white matter disorder characterized by the unique association of congenital cataract and hypomyelination of the central and peripheral nervous system.

Cited by 42 publications

References 27 publications

Linking oligodendrocyte and myelin dysfunction to neurocircuitry abnormalities in schizophrenia

Linking oligodendrocyte and myelin dysfunction to neurocircuitry abnormalities in schizophrenia

Peripheral neuropathy in complex inherited diseases: an approach to diagnosis

Type a Niemann-Pick Disease

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