T2-hyperintense cerebellar cortex in Marinesco–Sjögren syndrome

Harting, Inga; Blaschek, Astrid; Wolf, Nicole I.; Seitz, Andreas; Haupt, M.; Goebel, Hans H.; Rating, D.; K, Sartor; Ebinger, Friedrich

doi:10.1212/01.wnl.0000147324.74071.3e

Cited by 17 publications

(9 citation statements)

References 5 publications

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“…CNS: Cerebellar atrophy with/without T2-hyperintense signal of the cerebellar cortex is common, but not consistent and is most likely due to loss of Purkinje cells and secondary gliosis. 290 Absence or hypoplasia of the pituitary gland and callosal dysgenesis are rare. 288,289 14.…”

Section: Oeis Complex (Omim: 258040)mentioning

confidence: 99%

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

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Genetic skeletal disorders (GSDs) are a heterogeneous group characterized by an intrinsic abnormality in growth and (re-)modeling of cartilage and bone. A large subgroup of GSDs has additional involvement of other structures/organs beside the skeleton, such as the central nervous system (CNS). CNS abnormalities have an important role in long-term prognosis of children with GSDs and should consequently not be missed. Sensitive and specific identification of CNS lesions while evaluating a child with a GSD requires a detailed knowledge of the possible associated CNS abnormalities. Here, we provide a pattern-recognition approach for neuroimaging findings in GSDs guided by the obvious skeletal manifestations of GSD. In particular, we summarize which CNS findings should be ruled out with each GSD. The diseases (n = 180) are classified based on the skeletal involvement (1. abnormal metaphysis or epiphysis, 2. abnormal size/number of bones, 3. abnormal shape of bones and joints, and 4. abnormal dynamic or structural changes). For each disease, skeletal involvement was defined in accordance with Online Mendelian Inheritance in Man. Morphological CNS involvement has been described based on extensive literature search. Selected examples will be shown based on prevalence of the diseases and significance of the CNS involvement. CNS involvement is common in GSDs. A wide spectrum of morphological abnormalities is associated with GSDs. Early diagnosis of CNS involvement is important in the management of children with GSDs. This pattern-recognition approach aims to assist and guide physicians in the diagnostic work-up of CNS involvement in children with GSDs and their management.

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Section: Oeis Complex (Omim: 258040)mentioning

confidence: 99%

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Wagner

Poretti

Benson

et al. 2016

Journal of Neuroimaging

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“…One of the most distinctive organizing characteristics of the SC is its compartmental architecture. Many efferent and afferent systems show clusters, patches, puffs, or domains within the SC with spatially, neurochemically, and anatomically separated certain sensory and motor neurons [10, 15, 16, 26]. Quite precise modular organization of efferent cell clusters and afferent patches has also been reported in cat IGL; where the cell clusters that project to the cuneiform region were found to overlap precisely with the cholinergic terminal patches [18, 19].…”

Section: Discussionmentioning

confidence: 99%

“…It is a seven-layered structure that can be divided into three superficial (zonal, ZL; superficial gray, SGL; and optic layers, OL) and four deep layers (intermediate gray, IGL; intermediate white, IWL; deep gray, DGL; and deep white layers, DWL) [10, 14]. One of the principal organizing features of the SC is the topographical distribution of its afferents and efferents.…”

Section: Introductionmentioning

confidence: 99%

“…One of the principal organizing features of the SC is the topographical distribution of its afferents and efferents. Many afferent fibers and efferent cells are segregated into specific laminae or have puffs and patches that were first described by Graybiel [10, 14, 15, 17]. Calcium-binding proteins exhibit horizontal laminar segregation in the SC.…”

Section: Introductionmentioning

confidence: 99%

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Calcium-binding Protein Calretinin Immunoreactivity in the Dog Superior Colliculus

Lee

Choi

Ahn

et al. 2006

Acta Histochem. Cytochem

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We studied calretinin-immunoreactive (IR) fibers and cells in the canine superior colliculus (SC) and studied the distribution and effect of enucleation on the distribution of this protein. Localization of calretinin was immunocytochemically observed. A dense plexus of anti-calretinin-IR fibers was found within the upper part of the superficial gray layer (SGL). Almost all of the labeled fibers were small in diameter with few varicosities. The intermediate and deep layers contained many calretinin-IR neurons. Labeled neurons within the intermediate gray layer (IGL) formed clusters in many sections. By contrast, labeled neurons in the deep gray layer (DGL) did not form clusters. Calretinin-IR neurons in the IGL and DGL varied in morphology and included round/oval, vertical fusiform, stellate, and horizontal neurons. Neurons with varicose dendrites were also labeled in the IGL. Most of the labeled neurons were small to medium in size. Monocular enucleation produced an almost complete reduction of calretinin-IR fibers in the SC contralateral to the enucleation. However, many calretinin-IR cells appeared in the contralateral superficial SC. Enucleation appeared to have no effect on the distribution of calretinin-IR neurons in the contralateral intermediate and deep layers of the SC. The calretinin-IR neurons in the superficial dog SC were heterogeneous small- to medium-sized neurons including round/oval, vertical fusiform, stellate, pyriform, and horizontal in shape. Two-color immunofluorescence revealed that no cells in the dog SC expressed both calretinin and GABA. Many horseradish peroxidase (HRP)-labeled retinal ganglion cells were seen after injections into the superficial layers. The vast majority of the double-labeled cells (HRP and calretinin) were small cells. The present results indicate that antibody to calretinin labels subpopulations of neurons in the dog SC, which do not express GABA. The results also suggest that the calretinin-IR afferents in the superficial layers of the dog SC originate from small class retinal ganglion cells. The expression of calretinin might be changed by the cellular activity of selective superficial collicular neurons. These results are valuable in delineating the basic neurochemical architecture of the dog visual system.

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“…102 Brain MRI in MSS reveals vermian atrophy and hyperintensities of the cerebellar cortex. 103,104 Cerebellar cortical atrophy is seen on brain pathology, along with vacuolated purkinje cells. Muscle pathology demonstrates myopathic changes and electronmicroscopic findings of autophagic vacuoles, membranous whorls, and electron-dense double-membrane structures associated with nuclei.…”

Section: Inherited Ataxiasmentioning

confidence: 99%

Ataxia

Akbar

Ashizawa

2015

Neurologic Clinics

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Balance and coordination are products of complex circuitry involving the basal ganglia, cerebellum and cerebral cortex, as well as peripheral motor and sensory pathways. Malfunction of any part of this intricate circuitry can lead to imbalance and incoordination, or ataxia, of gait, the limbs or eyes, or a combination thereof. Ataxia can be a symptom of a multisystemic disorder, or it can manifest as the major component of a disease process. Ongoing discoveries of genetic abnormalities suggest the role ofmitochondrial dysfunction, oxidative stress, abnormal mechanisms of DNA repair, possible protein misfolding, and abnormalities in cytoskeletal proteins. Few ataxias are fully treatable, and most are symptomatically managed. A discussion of the ataxias is presented here with brief mention of acquired ataxias, and a greater focus on inherited ataxias.

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T2-hyperintense cerebellar cortex in Marinesco–Sjögren syndrome

Cited by 17 publications

References 5 publications

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Neuroimaging Findings in Pediatric Genetic Skeletal Disorders: A Review

Calcium-binding Protein Calretinin Immunoreactivity in the Dog Superior Colliculus

Ataxia

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