Infantile Bilateral Striatal Necrosis

Mito, Takashi

doi:10.1001/archneur.1986.00520070035014

Cited by 33 publications

(3 citation statements)

References 13 publications

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“…Brain lesions in our patients fulfilled the radiological criteria of bilateral striatal necrosis (BSN). This entity defines a group of disorders presenting with movement disorders and bilateral degeneration of the neostriata (caudate and putamen) [35][36][37]. BSN encompasses a subgroup of LS patients (MIM 256000), in whom the association with brainstem involvement and lactate peak in MRS is highly characteristic, as compared to other aetiologies [39].…”

Section: Discussionmentioning

confidence: 99%

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood

Baide‐Mairena

Gaudó

Martí-Sánchez

et al. 2019

Molecular Genetics and Metabolism

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To perform a deep phenotype characterisation in a pedigree of 3 siblings with Leigh syndrome and compound heterozygous NDUFAF6 mutations. Method: A multi-gene panel of childhood-onset basal ganglia neurodegeneration inherited conditions was analysed followed by functional studies in fibroblasts. Results: Three siblings developed gait dystonia in infancy followed by rapid progression to generalised dystonia and psychomotor regression. Brain magnetic resonance showed symmetric and bilateral cytotoxic lesions in the putamen and proliferation of the lenticular-striate arteries, latter spreading to the caudate and progressing to cavitation and volume loss. We identified a frameshift novel change (c.554_558delTTCTT; p.Tyr187AsnfsTer65) and a pathogenic missense change (c.371T > C; p.Ile124Thr) in the NDUFAF6 gene, which segregated with an autosomal recessive inheritance within the family. Patient mutations were associated with the absence of the NDUFAF6 protein and reduced activity and assembly of mature complex I in fibroblasts. By functional complementation assay, the mutant phenotype was rescued by the canonical version of the NDUFAF6. A literature review of 14 NDUFAF6 patients showed a consistent phenotype of an early childhood insidious onset neurological regression with prominent dystonia associated with basal ganglia degeneration and long survival. Interpretation: NDUFAF6-related Leigh syndrome is a relevant cause of childhood onset dystonia and isolated bilateral striatal necrosis. By genetic complementation, we could demonstrate the pathogenicity of novel genetic variants in NDUFAF6.

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Section: Discussionmentioning

confidence: 99%

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood

Baide‐Mairena

Gaudó

Martí-Sánchez

et al. 2019

Molecular Genetics and Metabolism

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“…Nevertheless, our fmdings, which highlight the role of the basal ganglia and related structures in overall learning ability, may bear some relevance to the neuroanatomy of human mental retardation. For example, pathology of the basal ganglia is not uncommon in the mentally retarded (Crome, 1960;Malamud, 1964;Mito, Tanaka, Becker, Takashima, & Junichi, 1986;Miyoshi, Matsuoka, & Mizushima, 1969;Takashima & Becker, 1985;Towbin, 1969). Furthermore, pathology of the basal ganglia and related nuclei in adult humans has been shown to be a consistent feature of "subcortical dementia" (Albert, 1978;Benson, 1983;Cummings, 1986;Huber & Paulson, 1985), a clinical condition most recently described as consisting of "slowing of cognition, memory disturbances, difficulty with complex intellectual tasks such as strategy generation and problem solving, visuospatial abnormalities, and disturbances in mood and affect" (Cummings, 1986, p. 682).…”

Section: A Brain-injured Animal Model Of Mental Retardationmentioning

confidence: 99%

Puzzle-box learning impairments in young rats with lesions to the “general learning system”

et al. 1989

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Young rats with focal lesions to the general learning system (parietal cortex, dorsal caudatoputamen, globus pallidus, ventrolateral thalamus, substantia nigra, ventral tegmental area, superior colliculus, median raphe, or pontine reticular formation) have previously been reported to be deficient in learning a wide variety of laboratory tasks. The purpose of the current study was to determine whether weanling rats with similarly placed lesions (or frontal cortical or dorsal hippocampallesions) would subsequently manifest a learning impairment on a series of puzzle-box problems. All groups with lesions to either the subcortical components of the general learning system (GLS) or the frontal (motor) cortex were significantly impaired in overall puzzle-box learning, while the groups with parietal or hippocampal lesions were not. These data suggest that the parietal cortex should be excluded from the GLS of the rat brain.Recent studies have shown that weanling rats sustaining bilateral damage to the region of the parietal cortex, dorsal caudatoputamen, globus pallidus, ventrolateral thalamic nucleus, lateral half of the substantia nigra, ventral tegmental area of Tsai, superior colliculus, median raphe, or pontine reticular formation are deficient in learning a wide variety of laboratory tasks (Thompson, Huestis, Crinella, & Yu, 1986. These tasks include detour problems, visual and nonvisual discrimination habits, and a 3-cul maze. By virtue of the general nature of this battery of learning tests (the tests were not limited to one sense modality, to one class of laboratory problems, or to one motivational state), it has been proposed that the foregoing nine brain regions are components of the rat's general learning system (GLS). It has further been proposed that young rats bearing lesions to the GLS can be viewed as being mentally retarded, at least to the extent that one of the distinguishing features of mental retardation is a generalized learning impairment (Clarke &

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“…Clinically, patients may present with developmental regression and movement disorders such as dystonia, tremor, choreoathetosis, and spastic quadriparesis; truncal ataxia and mutism have been reported as well [2]. The prognosis ranges from complete recovery to permanent impairment or early death.…”

Section: Introductionmentioning

confidence: 99%

Cytokine Production by Mononuclear Cells from Patients with Familial Infantile Bilateral Striatal Necrosis

Cohen

Bessler

Djaldetti

et al. 2017

Neuroimmunomodulation

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Prompted by findings suggesting immune instability in infantile bilateral striatal necrosis (IBSN), we evaluated levels of proinflammatory (tumor necrosis factor α, interleukin [IL]-1β, IL-6, interferon [IFN]γ) and anti-inflammatory (IL-10 and IL-1ra) cytokines produced by peripheral blood mononuclear cells (PBMC) from 6 children with IBSN and 11 age-matched controls. Compared to controls, non-stimulated PBMC from the IBSN group produced a significantly lower level of IL-1ra (by 38%; p < 0.001) and significantly lower levels of TNFα, IL-1β, and IFNγ (by 36% [p < 0.001], 25% [p = 0.06], and 32% [p < 0.02]) under PBMC stimulation. The severe cachexia manifesting shortly after IBSN onset may impair the immunological state, placing patients at risk of death from hyperpyrexia and sepsis.

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Infantile Bilateral Striatal Necrosis

Cited by 33 publications

References 13 publications

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood

Mutations in the mitochondrial complex I assembly factor NDUFAF6 cause isolated bilateral striatal necrosis and progressive dystonia in childhood

Puzzle-box learning impairments in young rats with lesions to the “general learning system”

Cytokine Production by Mononuclear Cells from Patients with Familial Infantile Bilateral Striatal Necrosis

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