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  1. Article: Síndromes lesionales de las vías nerviosas gustativas.

    Sánchez-Juan, P / Combarros, O

    Neurologia (Barcelona, Spain)

    2001  Volume 16, Issue 6, Page(s) 262–271

    Abstract: Although the lingual nerve and the chorda tympani are the components of the classic peripheral gustatory pathway, loss of taste in patients after surgery for trigeminal neuralgia supports for the existence of an accessory gustatory pathway through the ... ...

    Title translation Gustatory nervous pathway syndromes.
    Abstract Although the lingual nerve and the chorda tympani are the components of the classic peripheral gustatory pathway, loss of taste in patients after surgery for trigeminal neuralgia supports for the existence of an accessory gustatory pathway through the trigeminal sensory root and the gasserian ganglion. Bell's palsy is the most common pathology of the peripheral gustatory pathway. The central gustatory pathway ascends from the solitary tract nucleus in the medulla up to the upper pons in the ipsilateral central tegmental tract, rather than in the medial lemniscus as proposed in the past. It is not possible to specify whether the central gustatory pathway decussates or not at the lower midbrain level. Interruption of the gustatory pathway in the brainstem usually occurs with stroke or demyelination. The thalamic gustatory relay is located in the most medial aspect of the ventroposteromedial nucleus, immediately adjacent to the somatosensory area for the oral cavity and fingers. Therefore, ageusia associated with the sensory cheiro-oral syndrome may occur with a thalamic lesion. The laterality of the gustatory representation in the thalamus remains unresolved. Studies on epileptic gustatory aura have demonstrated that the insula and the anteromedial temporal lobe are the primary and secondary gustatory cortex, respectively. Taste perception results in patients with corpus callosum section and strokes or tumors involving the insula support the hypothesis that there is a gustatory representation of both hemitongues in the left cerebral hemisphere, whereas only the right hemitongue is represented in the right hemisphere.
    MeSH term(s) Afferent Pathways ; Cerebral Cortex/pathology ; Cerebral Cortex/physiology ; Cerebral Cortex/physiopathology ; Humans ; Taste ; Taste Disorders/diagnosis ; Taste Disorders/etiology ; Taste Disorders/pathology ; Taste Disorders/physiopathology ; Thalamus/pathology ; Thalamus/physiology ; Thalamus/physiopathology
    Language Spanish
    Publishing date 2001-06
    Publishing country Spain
    Document type English Abstract ; Journal Article ; Review
    ZDB-ID 1056021-x
    ISSN 1578-1968 ; 0213-4853
    ISSN (online) 1578-1968
    ISSN 0213-4853
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  2. Article ; Online: Thumb, forefinger, and lip numbness: a distinctive thalamic lacunar syndrome.

    Berciano, José / de Lucas, Enrique Marco / Combarros, Onofre

    Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology

    2012  Volume 34, Issue 2, Page(s) 253–254

    MeSH term(s) Female ; Fingers/physiopathology ; Humans ; Hypesthesia/etiology ; Hypesthesia/pathology ; Hypesthesia/physiopathology ; Lip/physiopathology ; Middle Aged ; Stroke, Lacunar/complications ; Stroke, Lacunar/pathology ; Stroke, Lacunar/physiopathology ; Thalamus/pathology ; Thalamus/physiopathology ; Thumb/physiopathology
    Language English
    Publishing date 2012-02-25
    Publishing country Italy
    Document type Case Reports ; Letter
    ZDB-ID 2016546-8
    ISSN 1590-3478 ; 1590-1874
    ISSN (online) 1590-3478
    ISSN 1590-1874
    DOI 10.1007/s10072-012-0992-2
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  3. Article: Engrosamiento nervioso en una niña con enfermedad de Charcot-Marie-Tooth tipo 1A.

    Berciano, J / Combarros, O

    Neurologia (Barcelona, Spain)

    1997  Volume 12, Issue 5, Page(s) 184

    Title translation Nerve enlargement in a girl with Charcot-Marie-Tooth disease type 1A.
    MeSH term(s) Charcot-Marie-Tooth Disease/pathology ; Child ; Female ; Humans ; Peripheral Nerves/pathology
    Language Spanish
    Publishing date 1997-05
    Publishing country Spain
    Document type Case Reports ; Journal Article
    ZDB-ID 1056021-x
    ISSN 1578-1968 ; 0213-4853
    ISSN (online) 1578-1968
    ISSN 0213-4853
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  4. Article: Ataxias y paraplejías hereditarias: revisión clinicogenética.

    Berciano, J / Infante, J / Mateo, I / Combarros, O

    Neurologia (Barcelona, Spain)

    2002  Volume 17, Issue 1, Page(s) 40–51

    Abstract: Hereditary ataxias encompass a series of syndromes basically characterised by progressive cerebellar ataxia of slow clinical course (occasionally, periodic ataxia or spastic paraparesis) and primary spinocerebellar degeneration. The prevalence ratio of ... ...

    Title translation Hereditary ataxias and paraplegias: a clinicogenetic review.
    Abstract Hereditary ataxias encompass a series of syndromes basically characterised by progressive cerebellar ataxia of slow clinical course (occasionally, periodic ataxia or spastic paraparesis) and primary spinocerebellar degeneration. The prevalence ratio of these syndromes in Spain is 20 cases per 100,000 inhabitants. Initially the ataxias were classified on the basis of clinicopathological criteria. Starting from the seminal papers by Harding published 20 years ago, a clinicogenetic classification was introduced that has given way to the present molecular classification. There have been localised about forty loci. In dominant ataxias the most frequent molecular defect is a dynamic CAG expansion responsible for abnormal polyglutamine tract transcription. The identification of such molecular defect has made it possible detection of gene carriers in clinical practice, this involving both presymptomatic and prenatal diagnosis; moreover, such molecular discoveries have contributed to develop a new pathogenetic era. A homozygous and intronic GAA expansion is the molecular basis of Friedreich's ataxia. This finding has also made it possible a molecular diagnosis in clinical practice. Molecular studies have demonstrated that hereditary spastic paraplegia is another heterogeneous genetic disorder.
    MeSH term(s) Ataxia/classification ; Ataxia/diagnosis ; Ataxia/genetics ; Ataxia/therapy ; Humans ; Paraplegia/classification ; Paraplegia/diagnosis ; Paraplegia/genetics ; Paraplegia/therapy
    Language Spanish
    Publishing date 2002-01
    Publishing country Spain
    Document type English Abstract ; Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1056021-x
    ISSN 1578-1968 ; 0213-4853
    ISSN (online) 1578-1968
    ISSN 0213-4853
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  5. Article ; Online: Gene-gene interaction between 14-3-3 zeta and butyrylcholinesterase modulates Alzheimer's disease risk.

    Mateo, I / Llorca, J / Infante, J / Rodríguez-Rodríguez, E / Berciano, J / Combarros, O

    European journal of neurology

    2008  Volume 15, Issue 3, Page(s) 219–222

    Abstract: A loss in the regulatory mechanism that controls tau phosphorylation in normal brain is suggested to cause tau hyperphosphorylation in Alzheimer's disease (AD) brain and the development of neurofibrillary tangles (NFT). 14-3-3 zeta protein and ... ...

    Abstract A loss in the regulatory mechanism that controls tau phosphorylation in normal brain is suggested to cause tau hyperphosphorylation in Alzheimer's disease (AD) brain and the development of neurofibrillary tangles (NFT). 14-3-3 zeta protein and butyrylcholinesterase (BCHE) are associated with NFT in AD brain and stimulate tau phosphorylation. In a case-control study in 231 AD patients and 221 healthy controls, we examined whether the combined effects between 14-3-3 zeta (rs964917 and rs983583) and BCHE (K variant) polymorphisms might be responsible for susceptibility to AD. Subjects carrying both the BCHE K allele and the 14-3-3 zeta rs964917 G/G genotype (OR = 0.44, 95% CI = 0.20-0.95, P = 0.03), or 14-3-3 zeta rs983583 G/G genotype (OR = 0.46, 95% CI = 0.21-1.00, P = 0.05) had a lower risk of developing AD than subjects without these risk genotypes. Considering synergistic effects between polymorphisms in tau phosphorylation relate-genes may help in determining the risk profile for AD.
    MeSH term(s) 14-3-3 Proteins/genetics ; 14-3-3 Proteins/metabolism ; Aged ; Aged, 80 and over ; Alzheimer Disease/genetics ; Butyrylcholinesterase/genetics ; Butyrylcholinesterase/metabolism ; Case-Control Studies ; Female ; Gene Frequency ; Genetic Predisposition to Disease ; Genotype ; Humans ; Male ; Middle Aged ; Polymorphism, Genetic ; Risk
    Chemical Substances 14-3-3 Proteins ; Butyrylcholinesterase (EC 3.1.1.8)
    Language English
    Publishing date 2008-03
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1280785-0
    ISSN 1468-1331 ; 1351-5101 ; 1471-0552
    ISSN (online) 1468-1331
    ISSN 1351-5101 ; 1471-0552
    DOI 10.1111/j.1468-1331.2008.02059.x
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  6. Article: Masa glútea y tumor maligno del nervio ciático.

    Rodero, L / Canga, A / Figols, J / Berciano, J / Combarros, O

    Neurologia (Barcelona, Spain)

    2004  Volume 19, Issue 1, Page(s) 27–31

    Abstract: Malignant peripheral nerve sheath tumors (MPNST) are rare. We report a case of a MPNST of the proximal sciatic nerve in the thigh, unassociated with pre-existing type 1 neurofibromatosis or history of radiation therapy. A 71-year-old man had a 6 month ... ...

    Title translation Buttock mass and malignant sciatic nerve tumor.
    Abstract Malignant peripheral nerve sheath tumors (MPNST) are rare. We report a case of a MPNST of the proximal sciatic nerve in the thigh, unassociated with pre-existing type 1 neurofibromatosis or history of radiation therapy. A 71-year-old man had a 6 month history of constant, severe, burning pain affecting the sole of the left foot. One month after the onset, the pain radiated to the left calf, posterior aspect of the thigh and buttock, and distal leg weakness followed. Three months prior to admission, the patient developed a large and painful mass in the buttock, that occupied the entire left gluteal region on examination. There was severe weakness of ankle and toe dorsiflexion and plantarflexion, decreased sensation on the lateral and posterior aspect of the left leg as well as on the dorsal and plantar surfaces of the foot, and absent ankle jerk. EMG showed denervation and motor unit loss in the short head of biceps femoris and muscles supplied by tibial and peroneal nerves on the left side. Magnetic resonance imaging revealed a 10-cm enhancing mass of the left sciatic nerve from the upper thigh to the greater sciatic notch. In surgery, a large MPNST with a high Ki67 labeling index (> 60 %) was subtotally removed from the sciatic nerve, and adjuvant radiation therapy was administered. In the ensuing months the tumor invaded the entire pelvic region. A high sciatic malignant tumor can present with a rapidly growing buttock mass and unilateral, neuropathic foot pain imitating the tarsal tunnel syndrome.
    MeSH term(s) Aged ; Buttocks ; Combined Modality Therapy ; Diagnosis, Differential ; Electromyography ; Humans ; Magnetic Resonance Imaging ; Male ; Neoplasm Invasiveness ; Nerve Sheath Neoplasms/diagnosis ; Nerve Sheath Neoplasms/pathology ; Nerve Sheath Neoplasms/radiotherapy ; Nerve Sheath Neoplasms/surgery ; Pain/etiology ; Peripheral Nervous System Neoplasms/diagnosis ; Peripheral Nervous System Neoplasms/pathology ; Peripheral Nervous System Neoplasms/radiotherapy ; Peripheral Nervous System Neoplasms/surgery ; Radiotherapy, Adjuvant ; Sciatic Nerve/pathology ; Sciatic Nerve/surgery ; Tarsal Tunnel Syndrome/diagnosis
    Language Spanish
    Publishing date 2004-01
    Publishing country Spain
    Document type Case Reports ; English Abstract ; Journal Article
    ZDB-ID 1056021-x
    ISSN 1578-1968 ; 0213-4853
    ISSN (online) 1578-1968
    ISSN 0213-4853
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  7. Article: Clinico-electrophysiological correlation of extensor digitorum brevis muscle atrophy in children with charcot-marie-tooth disease 1A duplication.

    Berciano, J / García, A / Calleja, J / Combarros, O

    Neuromuscular disorders : NMD

    2000  Volume 10, Issue 6, Page(s) 419–424

    Abstract: The purpose of the study is to describe the electrophysiologic abnormalities accounting for the appearance and progression of extensor digitorum brevis (EDB) muscle atrophy in Charcot-Marie-Tooth-disease type 1A (CMT-1A) children. Twelve children with ... ...

    Abstract The purpose of the study is to describe the electrophysiologic abnormalities accounting for the appearance and progression of extensor digitorum brevis (EDB) muscle atrophy in Charcot-Marie-Tooth-disease type 1A (CMT-1A) children. Twelve children with CMT-1A duplication were serially evaluated. Initial ages of clinico-electrophysiological exams ranged from 1 month to 4 years (mean: 2 years) and final ages from 6 to 23 years (mean: 13). All subjects had two or more electrophysiological studies of the peroneal nerve. EDB atrophy was observed in two out of 12 (17%) patients by the age of 5, in eight out of ten (80%) examined between 5 and 9 years, and in all eight (100%) patients who had reached the second decade at the end. Nerve conduction maturation was systematically abnormal, but by age of 5 the mean values of nerve conduction parameters of peroneal nerve did not significantly differ from those in older patients. Compound muscle action potential (CMAP) amplitudes of EDB were reduced in 42% of cases initially and 100% upon last exam. Furthermore, a constant finding throughout the study was progressive attenuation of CMAPs, these becoming unobtainable in four cases. EDB muscle atrophy in CMT-1A children is an age-dependent sign which is accounted for by gradual reduction of the distal peroneal nerve CMAP amplitudes.
    MeSH term(s) Action Potentials ; Adolescent ; Adult ; Charcot-Marie-Tooth Disease/genetics ; Charcot-Marie-Tooth Disease/pathology ; Charcot-Marie-Tooth Disease/physiopathology ; Child ; Child, Preschool ; Disease Progression ; Electrophysiology ; Female ; Gene Duplication ; Humans ; Infant ; Longitudinal Studies ; Male ; Muscle, Skeletal/pathology ; Muscle, Skeletal/physiopathology ; Muscular Atrophy/diagnosis ; Muscular Atrophy/etiology ; Muscular Atrophy/physiopathology ; Neural Conduction ; Peroneal Nerve/physiopathology ; Prospective Studies
    Language English
    Publishing date 2000-08
    Publishing country England
    Document type Clinical Trial ; Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1077681-3
    ISSN 1873-2364 ; 0960-8966
    ISSN (online) 1873-2364
    ISSN 0960-8966
    DOI 10.1016/s0960-8966(99)00114-5
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  8. Article: Akinetic mutism from frontal lobe damage responding to levodopa.

    Combarros, O / Infante, J / Berciano, J

    Journal of neurology

    2000  Volume 247, Issue 7, Page(s) 568–569

    MeSH term(s) Adult ; Akinetic Mutism/drug therapy ; Akinetic Mutism/etiology ; Dopamine Agents/therapeutic use ; Female ; Frontal Lobe/pathology ; Humans ; Levodopa/therapeutic use ; Treatment Outcome
    Chemical Substances Dopamine Agents ; Levodopa (46627O600J)
    Language English
    Publishing date 2000-09-01
    Publishing country Germany
    Document type Case Reports ; Letter
    ZDB-ID 187050-6
    ISSN 1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    ISSN (online) 1432-1459
    ISSN 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
    DOI 10.1007/s004150070161
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  9. Article ; Online: VEGF serum levels are not associated with Parkinson's disease.

    Infante, J / Mateo, I / Rodríguez-Rodríguez, E / Berciano, J / Combarros, O

    European journal of neurology

    2007  Volume 14, Issue 8, Page(s) e6

    MeSH term(s) Adult ; Age Distribution ; Aged ; Aged, 80 and over ; Causality ; Cytoprotection/physiology ; Down-Regulation/physiology ; Female ; Genetic Predisposition to Disease/genetics ; Humans ; Male ; Middle Aged ; Nerve Degeneration/metabolism ; Nerve Degeneration/physiopathology ; Neurons/metabolism ; Parkinson Disease/blood ; Parkinson Disease/physiopathology ; Polymorphism, Genetic/genetics ; Sex Distribution ; Substantia Nigra/metabolism ; Substantia Nigra/physiopathology ; Vascular Endothelial Growth Factor A/blood ; Vascular Endothelial Growth Factor A/deficiency ; Vascular Endothelial Growth Factor A/genetics
    Chemical Substances Vascular Endothelial Growth Factor A
    Language English
    Publishing date 2007-08
    Publishing country England
    Document type Letter ; Research Support, Non-U.S. Gov't
    ZDB-ID 1280785-0
    ISSN 1468-1331 ; 1351-5101 ; 1471-0552
    ISSN (online) 1468-1331
    ISSN 1351-5101 ; 1471-0552
    DOI 10.1111/j.1468-1331.2007.01709.x
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  10. Article: Hereditary neuropathies.

    Berciano, José / Combarros, Onofre

    Current opinion in neurology

    2003  Volume 16, Issue 5, Page(s) 613–622

    Abstract: Purpose of review: This review will update recent advances in the genetics, clinico-electrophysiological, pathological data and pathophysiology of Charcot-Marie-Tooth disease and related disorders.: Recent findings: Hereditary neuropathies continue ... ...

    Abstract Purpose of review: This review will update recent advances in the genetics, clinico-electrophysiological, pathological data and pathophysiology of Charcot-Marie-Tooth disease and related disorders.
    Recent findings: Hereditary neuropathies continue to be in a state of constant flux, reflecting the rapid advances in the description of causative genes, three additional Charcot-Marie-Tooth genes having been identified in recent months. Such an ever-increasing body of genetic data provides valuable clues to the pathogenetic mechanisms of both nerve demyelination and nerve axonal degeneration. The classification of Charcot-Marie-Tooth disease is increasingly more complex as there are approximately 26 loci; for clinicians to reach a simplified classification is a pressing need. Genotypic-phenotypic correlations are still incomplete and will require further research, starting from both refined molecular investigations and detailed clinical, electrophysiological, and pathological studies. Recent epidemiological surveys have corroborated the fact that Charcot-Marie-Tooth disease is the most common type of hereditary neuropathy.
    Summary: Advances in molecular genetics in hereditary neuropathies, and mainly in Charcot-Marie-Tooth disease, have enriched our knowledge of this heterogeneous group of disorders. In spite of this there remain important and basic issues, such as an updated and revised classification of Charcot-Marie-Tooth disorders, the better delineation of phenotypic-genotypic correlations, and further research to map as yet non-localized loci or to identify unknown gene mutations.
    MeSH term(s) Animals ; Charcot-Marie-Tooth Disease/classification ; Charcot-Marie-Tooth Disease/epidemiology ; Charcot-Marie-Tooth Disease/genetics ; Charcot-Marie-Tooth Disease/pathology ; Charcot-Marie-Tooth Disease/physiopathology ; Humans
    Language English
    Publishing date 2003-10
    Publishing country England
    Document type Journal Article ; Research Support, Non-U.S. Gov't ; Review
    ZDB-ID 1182686-1
    ISSN 1473-6551 ; 1350-7540
    ISSN (online) 1473-6551
    ISSN 1350-7540
    DOI 10.1097/01.wco.0000093105.34793.dd
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