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Pyramidal syndrome

Giulia Coarelli, Silvia Romano, Lorena Travaglini, Michela Ferraldeschi, Francesco Nicita, Maria Spadaro, Arianna Fornasiero, Marina Frontali, Marco Salvetti, Enrico Bertini, Giovanni Ristori
Hereditary spastic paraplegias (HSPs) are a heterogeneous group of neurological disorders characterized primarily by a pyramidal syndrome with lower limb spasticity, which can manifest as pure HSP or associated with a number of neurological or non-neurological signs (i.e., complicated HSPs). The clinical variability of HSPs is associated with a wide genetic heterogeneity, with more than eighty causative genes known. Recently, next generation sequencing (NGS) has allowed increasing genetic definition in such a heterogeneous group of disorders...
March 3, 2018: Clinical Neurology and Neurosurgery
Masayoshi Kurachi, Tsutomu Takahashi, Tomiki Sumiyoshi, Takashi Uehara, Michio Suzuki
Background: A recent review reported that the median proportion of patients recovering from schizophrenia was 13.5% and that this did not change over time. Various factors including the duration of untreated psychosis, cognitive impairment, negative symptoms, and morphological changes in the brain influence the functional outcome of schizophrenia. The authors herein reviewed morphological changes in the brain of schizophrenia patients, effects of early intervention, and a direction of developing novel therapeutics to achieve significant improvement of the functional outcome...
2018: Frontiers in Psychiatry
Lin Zhou, Liang Zhou, Li-da Su, Sheng-Long Cao, Ya-Jun Xie, Na Wang, Chong-Yu Shao, Ya-Nan Wang, Jia-Huan Zhou, John K Cowell, Ying Shen
Autosomal dominant lateral temporal epilepsy (ADLTE) is an inherited syndrome caused by mutations in the leucine-rich glioma inactivated 1 (LGI1) gene. It is known that glutamatergic transmission is altered in LGI1 mutant mice and seizures can be reduced by restoring LGI1 function. Yet, the mechanism underlying ADLTE is unclear. Here, we propose that seizures in male LGI1-/- mice are due to non-synaptic epileptiform activity in cortical neurons. We examined the intrinsic excitability of pyramidal neurons in the temporal cortex of male LGI1-/- mice and found that the voltage-gated K+ channel Kv1...
February 28, 2018: Journal of Neuroscience: the Official Journal of the Society for Neuroscience
Matthieu Raveau, Denis Polygalov, Roman Boehringer, Kenji Amano, Kazuhiro Yamakawa, Thomas J McHugh
Down syndrome, the leading genetic cause of intellectual disability, results from an extra-copy of chromosome 21. Mice engineered to model this aneuploidy exhibit Down syndrome-like memory deficits in spatial and contextual tasks. While abnormal neuronal function has been identified in these models, most studies have relied on in vitro measures. Here, using in vivo recording in the Dp(16)1Yey model, we find alterations in the organization of spiking of hippocampal CA1 pyramidal neurons, including deficits in the generation of complex spikes...
February 27, 2018: ELife
Pingping Zhu, Jialing Li, Liting Zhang, Zhanrong Liang, Bin Tang, Wei-Ping Liao, Yong-Hong Yi, Tao Su
Kv1.1, a Shaker homologue potassium channel, plays a critical role in homeostatic regulation of neuronal excitability. Aberrations in the functional properties of Kv1.1 have been implicated in several neurological disorders featured by neuronal hyperexcitability. Fragile X syndrome (FXS), the most common form of inherited mental retardation, is characterized by hyperexcitability in neural network and intrinsic membrane properties. The Kv1.1 channel provides an intriguing mechanistic candidate for FXS. We investigated the development-related expression pattern of the Kv1...
February 23, 2018: Progress in Neuro-psychopharmacology & Biological Psychiatry
André Pessoa, Vanessa van der Linden, Marshalyn Yeargin-Allsopp, Maria Durce Costa Gomes Carvalho, Erlane Marques Ribeiro, Kim Van Naarden Braun, Maureen S Durkin, Daniel M Pastula, Jazmyn T Moore, Cynthia A Moore
Initial reports of congenital Zika virus (ZIKV) infection focused on microcephaly at birth with severe brain anomalies; the phenotype has broadened to include microcephaly that develops after birth and neurodevelopmental sequelae. In this narrative review, we summarize medical literature describing motor abnormalities and epilepsy in infants with evidence of congenital ZIKV infection and provide information on the impact of these conditions. Specific scenarios are used to illustrate the complex clinical course in infants with abnormalities that are consistent with congenital Zika syndrome...
February 2018: Pediatrics
Nuno Mendonça, Marcondes C França, António Freire Gonçalves, Cristina Januário
Machado-Joseph disease (MJD) also known as Spinocerebellar ataxia type 3, is a hereditary neurodegenerative disease associated with severe clinical manifestations and premature death. Although rare, it is the most common autosomal dominant spinocerebellar ataxia worldwide and has a distinct geographic distribution, reaching peak prevalence in certain regions of Brazil, Portugal and China. Due to its clinical heterogeneity, it was initially described as several different entities and as had many designations over the last decades...
2018: Advances in Experimental Medicine and Biology
Melissa J Alldred, Helen M Chao, Sang Han Lee, Judah Beilin, Brian E Powers, Eva Petkova, Barbara J Strupp, Stephen D Ginsberg
Although there are changes in gene expression and alterations in neuronal density and afferent inputs in the forebrain of trisomic mouse models of Down syndrome (DS) and Alzheimer's disease (AD), there is a lack of systematic assessments of gene expression and encoded proteins within individual vulnerable cell populations, precluding translational investigations at the molecular and cellular level. Further, no effective treatment exists to combat intellectual disability and basal forebrain cholinergic neurodegeneration seen in DS...
February 2, 2018: Hippocampus
Simone Chiola, Mihn Duc Do, Lucy Centrone, Antonello Mallamaci
The architecture of neocortical projection neurons is subject of a complex gene control. Here we demonstrated that Foxg1, a transcription factor gene which patterns the early rostral brain and sets the pace of telencephalic neuronogenesis, specifically stimulates dendrite elongation. This phenomenon occurs in vivo like in vitro, and it is detectable even upon moderate changes of Foxg1 expression levels. We found that Foxg1 acts by stimulating Hes1, which in turn upregulates pCreb1, a well-known pro-dendritogenic effector, and downregulates Syt and Ndr1, namely two established antagonizers of dendrite elongation...
January 28, 2018: Cerebral Cortex
Franca Wagner, David S Titelbaum, Renate Engisch, Emily K Coskun, Jeff L Waugh
PURPOSE: Hereditary spastic paraplegia (HSP) and hereditary spastic ataxia (HSA) are a heterogeneous group of genetic disorders characterized by progressive lower limb spasticity resulting from pyramidal tract dysfunction. By identifying critical imaging findings within the clinical context of spasticity, radiologists are uniquely positioned to recommend specific genetic testing, and thus facilitate diagnosis. METHODS: We present two examples of HSP and HSA that had gone clinically unrecognized for years, and in which magnetic resonance imaging played a critical role in the diagnosis...
January 29, 2018: Clinical Neuroradiology
Jon Berg-Johnsen, Einar August Høgestøl
BACKGROUND: Resection within the supplementary motor area (SMA) may be accompanied by dramatic motor deficits and speech arrest when the dominant hemisphere is involved, termed the SMA syndrome. Typically, the muscle tone of the paralyzed extremities is preserved, and in most cases, a complete or near complete recovery is seen within a few months. The SMA syndrome has not been recognized for extra-axial tumor surgery in approximation of the SMA. METHODS: We observed the SMA syndrome in a patient operated for a parasagittal meningioma in the posterior frontal region, and this observation intrigued us to prospectively collect similar cases...
March 2018: Acta Neurochirurgica
Dino Dvorak, Basma Radwan, Fraser T Sparks, Zoe Nicole Talbot, André A Fenton
Behavior is used to assess memory and cognitive deficits in animals like Fmr1-null mice that model Fragile X Syndrome, but behavior is a proxy for unknown neural events that define cognitive variables like recollection. We identified an electrophysiological signature of recollection in mouse dorsal Cornu Ammonis 1 (CA1) hippocampus. During a shocked-place avoidance task, slow gamma (SG) (30-50 Hz) dominates mid-frequency gamma (MG) (70-90 Hz) oscillations 2-3 s before successful avoidance, but not failures...
January 18, 2018: PLoS Biology
C James Howell, Michael P Sceniak, Min Lang, Wenceslas Krakowiecki, Fatimah E Abouelsoud, Saloni U Lad, Heping Yu, David M Katz
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused by loss-of-function mutations in the gene encoding methyl-CpG-binding protein 2 (MeCP2; Amir et al., 1999), a transcriptional regulatory protein (Klose et al., 2005). Mouse models of RTT (Mecp2 mutants) exhibit excitatory hypoconnectivity in the medial prefrontal cortex (mPFC; Sceniak et al., 2015), a region critical for functions that are abnormal in RTT patients, ranging from learning and memory to regulation of visceral homeostasis (Riga et al...
November 2017: ENeuro
Lorenzo Ugga, Cinzia Coppola, Sirio Cocozza, Dario Saracino, Ferdinando Caranci, Francesco Tuccillo, Elisabetta Signoriello, Sara Casertano, Giuseppe Di Iorio, Enrico Tedeschi
Motor neuron disease (MND) is a neurodegenerative disease determining progressive and relentless motor deterioration involving both upper and lower motor neurons (UMN and LMN); several variants at onset are described. Here we describe a case of MND presenting as pure spastic monoparesis in which magnetic resonance imaging (MRI) gave a substantial contribution in confirming the diagnosis and assessing the severity of UMN involvement. An isolated pyramidal syndrome, with complete absence of LMN signs, is a rare phenotype in the context of MND (less than 4% of total cases), especially if restricted to only one limb...
December 2017: Quantitative Imaging in Medicine and Surgery
Minhan Ka, Woo-Yang Kim
Haploinsufficiency of ANKRD11 due to deletion or truncation mutations causes KBG syndrome, a rare genetic disorder characterized by intellectual disability, autism spectrum disorder, and craniofacial abnormalities. However, little is known about the neurobiological role of ANKRD11 during brain development. Here we show that ANKRD11 regulates pyramidal neuron migration and dendritic differentiation in the developing moue cerebral cortex. Using an in utero manipulation approach, we found that Ankrd11 knockdown delayed radial migration of cortical neurons...
December 21, 2017: Neurobiology of Disease
Hélio Afonso Ghizoni Teive, Carlos Henrique F Camargo, Mario Teruo Sato, Naoye Shiokawa, Cesar L Boguszewski, Salmo Raskin, Cassandra Buck, Stephanie B Seminara, Renato Puppi Munhoz
Autosomal recessive cerebellar ataxias (ARCAs) represent a heterogeneous group of inherited disorders. The association of early-onset cerebellar ataxia with hypogonadotropic hypogonadism is related to two syndromes, known as Gordon Holmes syndrome (GHS-ataxia and pyramidal signs with hypogonadotropic hypogonadism) and Boucher-Neuhäuser syndrome (BNS-ataxia with chorioretinal dystrophy). Mutations in the PNPLA6 gene have been identified as the cause of hereditary spastic paraplegia and complex forms of ataxia associated with retinal and endocrine manifestations...
December 16, 2017: Cerebellum
Géraldine Martens, Steven Laureys, Aurore Thibaut
Background: Spasticity is a motor disorder frequently encountered after a lesion involving the central nervous system. It is hypothesized to arise from an anarchic reorganization of the pyramidal and parapyramidal fibers and leads to hypertonia and hyperreflexia of the affected muscular groups. While this symptom and its management is well-known in patients suffering from stroke, multiple sclerosis or spinal cord lesion, little is known regarding its appropriate management in patients presenting disorders of consciousness after brain damage...
December 9, 2017: Brain Sciences
Jonathan Levy, Sarah Hartley, Elsa Mauruc-Soubirac, Antoine Leotard, Frederic Lofaso, Maria-Antonia Quera-Salva, Djamel Bensmail
BACKGROUND: Spasticity and spasms are distressing features of the upper motor neuron syndrome (UMNS) following spinal cord injuries (SCI) or multiple sclerosis (MS), and have common therapeutic implications. Despite an increase of antispastic drugs and strategies, sometimes up to the surgical implant of intrathecal baclofen pump, some patients still complain of disabling spasms, which poses diagnostic and therapeutic challenges. Although clinically similar, flexor spasms due to pyramidal tract disruption must be clearly differentiated from periodic limb movements (PLM), often accompanying restless leg syndrome (RLS) and occurring during sleep...
December 4, 2017: European Journal of Physical and Rehabilitation Medicine
Raida Ben Salah, Yosra Cherif, Faten Frikha, Dammak Chifaa, Mouna Snoussi, Moez Jallouli, Sameh Marzouk, Mhiri Chokri, Zouhir Bahloul
Background: Multiple sclerosis and other demyelinating processes are sometimes difficult to differentiate from the neurological involvement in autoimmune diseases. Distinguishing multiple sclerosis from other lesions due to autoimmune diseases is crucial to avoid unsuitable or delayed treatments. Methods: Charts of 6 patients diagnosed with mimicking multiple sclerosis between 1996 and 2014 were retrospectively assessed. Results: The mean age at diagnosis was 35±7 years...
2017: Caspian Journal of Internal Medicine
Antonio Marangi, Alberto Gajofatto, Damiano Marastoni, Francesca Gobbin, Flavio Guiotto, Paola Tonin, Maria Donata Benedetti
Only few reports exist regarding the coexistence of multiple sclerosis (MS) and autoimmune myopathies. We describe the case of a man with a long history of undiagnosed left lower limb motor impairment who was hospitalized for subacute onset of a myopathic syndrome. In addition, neurological examination revealed sensory impairment and pyramidal signs in the left limbs. Muscle biopsy revealed a necrotizing myopathy and serum anti-signal recognition particle (SRP) antibodies were found. Brain and spinal cord MRI displayed several non-enhancing demyelinating lesions, and CSF-restricted oligoclonal bands were detected...
January 2018: Multiple Sclerosis and related Disorders
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