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Dorit Lev - One of the best experts on this subject based on the ideXlab platform.

  • infantile onset progressive cerebellar atrophy and Anterior Horn Cell degeneration a novel phenotype associated with mutations in the pla2g6 gene
    European Journal of Medical Genetics, 2020
    Co-Authors: Michal Gafner, Dorit Lev, Lubov Blumkin, Tally Lermansagie, Marina Michelson, Keren Yosovich
    Abstract:

    Abstract Pontocerebellar hypoplasia (PCH) encompasses a group of neurodegenerative disorders. There are ten known subtypes with common characteristics of pontine and cerebellar hypoplasia or atrophy, neocortical atrophy, and microcephaly. PCH is associated with Anterior Horn Cell degeneration in PCH1a and PCH1b due to mutations in the VRK1 and EXOSC3 genes. Late onset PCH1 has been described in single case reports. The molecular etiology remains mostly unknown. We describe two siblings from a consanguineous Moslem Arabic family with a unique combination of progressive cerebellar atrophy and a SMA-like Anterior Horn Cell degeneration due to a homozygous mutation in the PLA2G6 gene (NM_003560.2). The PLA2G6 gene encodes phospholipase A2 beta, which is involved in the remodeling of membrane phospholipids, signal transduction and calcium signaling, Cell proliferation and apoptosis. Mutations in PLA2G6 are known to cause Neurodegeneration with brain iron accumulation 2 (NBIA2): Our patients have some similarities with NBIA2; both are characterized by rapidly progressive psychomotor regression and cerebellar atrophy. However, NBIA2 is not known to exhibit Anterior Horn Cell degeneration. Our patients' phenotype is more consistent with late onset PCH1; thus, indicating that the spectrum of clinical and radiological presentations of PLA2G6 mutations should be extended and that this gene should be included in the molecular evaluation of patients with late onset PCH1.

  • infantile onset progressive cerebellar atrophy and Anterior Horn Cell degeneration a late onset variant of pch 1
    European Journal of Paediatric Neurology, 2008
    Co-Authors: Dorit Lev, Chana Vinkler, Lubov Blumkin, Stavit A. Shalev, Marina Michelsonkerman, Tally Lermansagie
    Abstract:

    Despite major recent advances in our understanding of developmental cerebellar disorders, classification and delineation of these disorders remains difficult. The term pontocerebellar hypoplasia is used when there is a structural defect, originating in utero of both pons and cerebellar hemispheres. The term olivopontocerebellar atrophy is used when the disorder starts later in life and the process is a primary degeneration of cerebellar neurons. Pontocerebellar hypoplasia type 1 is associated with spinal Anterior Horn Cell degeneration, congenital contractures, microcephaly, polyhydramnion and respiratory insufficiency leading to early death. However, Anterior Horn Cell degeneration has also been described in cases with later onset pontocerebellar atrophy and recently the spectrum has even been further extended to include the association of Anterior Horn Cell degeneration and cerebellar atrophy without pontine involvement. We describe two siblings from a consanguineous Moslem Arabic family who presented with progressive degeneration of both the cerebellum and the Anterior Horn Cells. The patients presented after 1 year of age with a slow neurodegenerative course that included both cognitive and motor functions. There is considerable phenotypic variability; the sister shows a much milder course. Both children are still alive at 6 and 9 years. The sister could still crawl and speak two word sentences at the age of 3 years while the brother was bedridden and only uttered guttural sounds at the same age. Our cases further extend the phenotype of the cerebellar syndromes with Anterior Horn Cell involvement to include a childhood onset and protracted course and further prove that this neurodegenerative disorder may start in utero or later in life.

  • Infantile onset progressive cerebellar atrophy and Anterior Horn Cell degeneration--a late onset variant of PCH-1?
    European Journal of Paediatric Neurology, 2008
    Co-Authors: Dorit Lev, Marina Michelson-kerman, Chana Vinkler, Lubov Blumkin, Stavit A. Shalev, Tally Lerman-sagie
    Abstract:

    Despite major recent advances in our understanding of developmental cerebellar disorders, classification and delineation of these disorders remains difficult. The term pontocerebellar hypoplasia is used when there is a structural defect, originating in utero of both pons and cerebellar hemispheres. The term olivopontocerebellar atrophy is used when the disorder starts later in life and the process is a primary degeneration of cerebellar neurons. Pontocerebellar hypoplasia type 1 is associated with spinal Anterior Horn Cell degeneration, congenital contractures, microcephaly, polyhydramnion and respiratory insufficiency leading to early death. However, Anterior Horn Cell degeneration has also been described in cases with later onset pontocerebellar atrophy and recently the spectrum has even been further extended to include the association of Anterior Horn Cell degeneration and cerebellar atrophy without pontine involvement. We describe two siblings from a consanguineous Moslem Arabic family who presented with progressive degeneration of both the cerebellum and the Anterior Horn Cells. The patients presented after 1 year of age with a slow neurodegenerative course that included both cognitive and motor functions. There is considerable phenotypic variability; the sister shows a much milder course. Both children are still alive at 6 and 9 years. The sister could still crawl and speak two word sentences at the age of 3 years while the brother was bedridden and only uttered guttural sounds at the same age. Our cases further extend the phenotype of the cerebellar syndromes with Anterior Horn Cell involvement to include a childhood onset and protracted course and further prove that this neurodegenerative disorder may start in utero or later in life.

Kathryn N North - One of the best experts on this subject based on the ideXlab platform.

  • Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of Anterior Horn Cells
    Brain, 2012
    Co-Authors: Emily C. Oates, Luke C. Gandolfo, Simon Hawke, Michael Rodriguez, Stephen W Reddel, Melanie Bahlo, Shireen R. Lamandé, Nigel F Clarke, Kathryn N North
    Abstract:

    Autosomal dominant congenital spinal muscular atrophy is characterized by predominantly lower limb weakness and wasting, and congenital or early-onset contractures of the hip, knee and ankle. Mutations in TRPV4, encoding a cation channel, have recently been identified in one large dominant congenital spinal muscular atrophy kindred, but the genetic basis of dominant congenital spinal muscular atrophy in many families remains unknown. It has been hypothesized that differences in the timing and site of Anterior Horn Cell loss in the central nervous system account for the variations in clinical phenotype between different forms of spinal muscular atrophy, but there has been a lack of neuropathological data to support this concept in dominant congenital spinal muscular atrophy. We report clinical, electrophysiology, muscle magnetic resonance imaging and histopathology findings in a four generation family with typical dominant congenital spinal muscular atrophy features, without mutations in TRPV4, and in whom linkage to other known dominant neuropathy and spinal muscular atrophy genes has been excluded. The autopsy findings in the proband, who died at 14 months of age from an unrelated illness, provided a rare opportunity to study the neuropathological basis of dominant congenital spinal muscular atrophy. There was a reduction in Anterior Horn Cell number in the lumbar and, to a lesser degree, the cervical spinal cord, and atrophy of the ventral nerve roots at these levels, in the absence of additional peripheral nerve pathology or abnormalities elsewhere along the neuraxis. Despite the young age of the child at the time of autopsy, there was no pathological evidence of ongoing loss or degeneration of Anterior Horn Cells suggesting that Anterior Horn Cell loss in dominant congenital spinal muscular atrophy occurs in early life, and is largely complete by the end of infancy. These findings confirm that dominant congenital spinal muscular atrophy is a true form of spinal muscular atrophy caused by a loss of Anterior Horn Cells localized to lumbar and cervical regions early in development. * Abbreviations : LOD : logarithm of odds SMA : spinal muscular atrophy

  • Autosomal dominant congenital spinal muscular atrophy: a true form of spinal muscular atrophy caused by early loss of Anterior Horn Cells.
    Brain : a journal of neurology, 2012
    Co-Authors: Emily C. Oates, Luke C. Gandolfo, Stephen W Reddel, Melanie Bahlo, Shireen R. Lamandé, Nigel F Clarke, Michael L Rodriguez, Simon H Hawke, Kathryn N North
    Abstract:

    Autosomal dominant congenital spinal muscular atrophy is characterized by predominantly lower limb weakness and wasting, and congenital or early-onset contractures of the hip, knee and ankle. Mutations in TRPV4, encoding a cation channel, have recently been identified in one large dominant congenital spinal muscular atrophy kindred, but the genetic basis of dominant congenital spinal muscular atrophy in many families remains unknown. It has been hypothesized that differences in the timing and site of Anterior Horn Cell loss in the central nervous system account for the variations in clinical phenotype between different forms of spinal muscular atrophy, but there has been a lack of neuropathological data to support this concept in dominant congenital spinal muscular atrophy. We report clinical, electrophysiology, muscle magnetic resonance imaging and histopathology findings in a four generation family with typical dominant congenital spinal muscular atrophy features, without mutations in TRPV4, and in whom linkage to other known dominant neuropathy and spinal muscular atrophy genes has been excluded. The autopsy findings in the proband, who died at 14 months of age from an unrelated illness, provided a rare opportunity to study the neuropathological basis of dominant congenital spinal muscular atrophy. There was a reduction in Anterior Horn Cell number in the lumbar and, to a lesser degree, the cervical spinal cord, and atrophy of the ventral nerve roots at these levels, in the absence of additional peripheral nerve pathology or abnormalities elsewhere along the neuraxis. Despite the young age of the child at the time of autopsy, there was no pathological evidence of ongoing loss or degeneration of Anterior Horn Cells suggesting that Anterior Horn Cell loss in dominant congenital spinal muscular atrophy occurs in early life, and is largely complete by the end of infancy. These findings confirm that dominant congenital spinal muscular atrophy is a true form of spinal muscular atrophy caused by a loss of Anterior Horn Cells localized to lumbar and cervical regions early in development.

Erich Reusche - One of the best experts on this subject based on the ideXlab platform.

  • Familial pontocerebellar hypoplasia type I with Anterior Horn Cell disease.
    European Journal of Paediatric Neurology, 1999
    Co-Authors: Ute Görgen-pauly, Jürgen Sperner, Irwin Reiss, Hans-björn Gehl, Erich Reusche
    Abstract:

    Abstract We report the association of pontocerebellar hypoplasia and Anterior Horn Cell disease in three female siblings. One child presented with the classical clinical and neuropathological features of pontocerebellar hypoplasia with associated Anterior Horn Cell disease, described by Barth as pontocerebellar hypoplasia type I. This patient showed polyhydramnios, congenital contractures, respiratory insufficiency, hypotonia, areflexia, listlessness and myoclonic seizures. Postmortem examination revealed a loss of neurons and reactive gliosis in the pontocerebellum and in addition Anterior Horn Cell atrophy resembling Werdnig–Hoffmann disease. Another sibling demonstrated the same clinical symptoms. However neuropathological findings showed evidence for pontocerebellar hypoplasia only. The third sibling was examined after induced fetal abortion because of prenatally diagnosed arthrogryposis. Anterior Horn Cell disease was obvious histologically whereas pontocerebellar hypoplasia could not be demonstrated due to cerebral autolysis. The similar clinical and neuropathological findings in the three reported siblings suggest a common genetic defect with different patterns of pontocerebellar hypoplasia and associated Anterior Horn Cell disease. The gene defect of this rare disorder is still unknown. The ‘survival motor neuron’ gene of spinal muscular atrophy was not found in these three siblings.

Michael Swash - One of the best experts on this subject based on the ideXlab platform.

  • fasciculation cramp syndrome preceding Anterior Horn Cell disease an intermediate syndrome
    Journal of Neurology Neurosurgery and Psychiatry, 2011
    Co-Authors: Mamede De Carvalho, Michael Swash
    Abstract:

    Cramp-fasciculation syndrome (cramp-FS) is an ill-defined condition with uncertain clinical limits. The authors studied a 55-year-old man with progressively more severe, widespread fasciculations and cramps during a 6-year-period. Mild progressive lower motor neuron loss, shown by motor unit number and multi-motor unit potential (MUP) analysis, developed during the 4 years after onset, which stabilised during a further 2-year follow-up. Cramp-FS is generally a benign syndrome, probably with several causations. Our patient developed a limited form of Anterior Horn Cell degeneration perhaps representing a syndrome transitional with amyotrophic lateral sclerosis. Cramp-FS merits more detailed study.

  • Fasciculation-cramp syndrome preceding Anterior Horn Cell disease: an intermediate syndrome?
    Journal of Neurology Neurosurgery and Psychiatry, 2010
    Co-Authors: Mamede De Carvalho, Michael Swash
    Abstract:

    Cramp-fasciculation syndrome (cramp-FS) is an ill-defined condition with uncertain clinical limits. We studied a 55-year-old man with progressively more severe, widespread fasciculations and cramps during a six-year period. Mild progressive lower motor neuron loss, shown by MUNE and multiMUP analysis, developed during the four years after onset, which stabilized during a further 2-year follow-up. Cramp-FS is generally a benign syndrome, probably with several causations. Our patient developed a limited form of Anterior Horn Cell degeneration perhaps representing a syndrome transitional with amyotrophic lateral sclerosis. Cramp-FS merits more detailed study.

Mustafa Ertas - One of the best experts on this subject based on the ideXlab platform.

  • 0 International League Against Epilepsy Subclinical Anterior Horn Cell Involvement in Juvenile
    2016
    Co-Authors: Mustafa Ertas, Cumhur Ertekin, Nilgun Arac, Safiye Bilgin, See Profile, Myoclonic Epilepsy, Burhanettin Uludağ, Hakan Ediboglu
    Abstract:

    A special kind of Anterior Horn Cell involvement in juvenile myoclonic epilepsy demonstrated by macro electromyograph

  • 0 International League Against Epilepsy Subclinical Anterior Horn Cell Involvement in Juvenile
    2016
    Co-Authors: Cumhur Ertekin, Nilgun Arac, Safiye Bilgin, Mustafa Ertas, See Profile, Myoclonic Epilepsy, Hakan Ediboglu
    Abstract:

    Subclinical Anterior Horn Cell involvement in juvenile myoclonic epileps

  • A special kind of Anterior Horn Cell involvement in juvenile myoclonic epilepsy demonstrated by macro electromyography.
    Muscle & nerve, 1997
    Co-Authors: Mustafa Ertas, Cumhur Ertekin, Nilgun Arac, Burhanettin Uludağ, Erik Stålberg
    Abstract:

    Juvenile myoclonic epilepsy (JME) is not an uncommon seizure disorder, occurring in 5-10% of epileptic patients. A subclinical Anterior Horn Cell involvement has been suggested in some JME patients by concentric needle electromyography (EMG) and turn/amplitude analysis. In this study, 22 JME patients and 17 normal control subjects have been studied with macro EMG, which is a sensitive method to assess the size of motor units. Most JME patients (19 of 22) had a pathologically increased number of individual large macro motor unit action potentials (MUAPs) compared to control subjects. For both biceps brachii and tibialis Anterior muscles, means of median macro MUAP amplitudes were significantly greater than those of normal controls, whereas the fiber density values were only slightly increased. This suggested another kind of Anterior Horn Cell involvement in JME than seen in motor neuron diseases.

  • Subclinical Anterior Horn Cell Involvement in Juvenile Myoclonic Epilepsy
    Epilepsia, 1994
    Co-Authors: Cumhur Ertekin, Nilgun Arac, Safiye Bilgin, Hakan Ediboglu, Mustafa Ertas
    Abstract:

    Summary: Although clinical signs of muscle wasting and weakness were not present, electromyographic (EMG) evidence of subclinical Anterior Horn Cell involvement of spinal cord was noted in 5 patients with juvenile myoclonic epilepsy (JME). Quantitative interference pattern analysis of EMG recorded from the Anterior tibial muscle showed that the ratio (amplitude:turn/turn:second, A:T/ T:S) was significantly increased in 10 patients with JME and 12 patients with lower motor neuron disorders (LMND) as compared with those of 22 normal subjects and 15 patients with frequent generalized tonic-clonic seizures (GTC). Subclinical Anterior Horn Cell involvement detected by EMG techniques can be related to a geneti