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Cerebellar syndrome

Andreas Hahn, Martin Schain, Maria Erlandsson, Petter Sjölin, Gregory M James, Olof T Strandberg, Douglas Hägerström, Rupert Lanzenberger, Jonas Jögi, Tomas G Olsson, Ruben Smith, Oskar Hansson
: Aggregation of hyperphosphorylated tau is a major hallmark of many neurodegenerative diseases, including Alzheimer's disease. In vivo imaging with positron emission tomography (PET) may offer important insights in pathophysiological mechanisms, diagnosis and disease progression. We describe different strategies for quantification of (18)F-AV1451 (T807) tau binding, including models with blood sampling and non-invasive alternatives. METHODS: 15 subjects (4 controls, 6 Alzheimer's disease (AD), 3 progressive supranuclear palsy (PSP), 2 cortico basal syndrome (CBS)) underwent 180 min PET with (18)F-AV1451 and arterial blood sampling...
October 20, 2016: Journal of Nuclear Medicine: Official Publication, Society of Nuclear Medicine
M Pistacchi, M Gioulis, F Sanson, S M Marsala
INTRODUCTION: Fahr's disease is characterized by bilateral calcium deposition within the basal ganglia, cerebellar dentate nucleus and subcortical brain white matter. The main clinical manifestations are rigid or hyperkinetic syndrome, mood disorders and cognitive impairment. The correlation between neurological impairment and symmetrical basal ganglia calcification is not so frequent. Aim of the study was to report the results of neurological assessment of three sporadic cases of Fahr's disease highlighting a correlation between the clinical syndrome and neuroimaging...
2016: Folia Neuropathologica
Rangaswamy, V Ranjith, L Vikas, R Santosh
Fahr's disease or Fahr's syndrome is a rare neurodegenerative disorder characterized by abnormal symmetrical calcifications of the basal ganglia, thalami, sub-cortical hemispheric white matter and deep cerebellar nuclei. It can be idiopathic or associated with an endocrinopathy, frequently with parathyroid disorder. Clinical spectrum of the disease is wide ranging from neurological features like seizure, syncope, stroke like events, extra-pyramidal symptoms often combined with frontal sub-cortical pattern of behavioural dysfunction and psychiatric symptoms such as psychosis, mood disorder and dementia...
August 2016: Journal of the Association of Physicians of India
Yanling Wei, Jun Yang, Jun Wang, Yang Yang, Juan Huang, Hao Gong, Hongli Cui, Dongfeng Chen
BACKGROUND: The dysbiosis of intestinal microbiota plays an important role in the development of gut-derived infections, making it a potential therapeutic target against multiple organ dysfunction syndrome (MODS) after sepsis. However, the effectiveness of fecal microbiota transplantation (FMT) in treating this disease has been rarely investigated. METHODS: Two male patients, a 65-year-old and an 84-year-old, were initially diagnosed with cerebellar hemorrhage and cerebral infarction, respectively, after admission...
October 18, 2016: Critical Care: the Official Journal of the Critical Care Forum
Anna Maria Pinto, Valentina Imperatore, Laura Bianciardi, Margherita Baldassarri, Paolo Galluzzi, Simone Furini, Giovanni Centini, Alessandra Renieri, Francesca Mari
Orofacial clefts are the most common congenital craniofacial anomalies and can occur as an isolated defect or be associated with other anomalies such as posterior fossa anomalies as a part of several genetic syndromes. We report two consecutive voluntary pregnancy interruptions in a nonconsanguineous couple following the fetal ultrasound finding of cleft lip and palate and posterior fossa anomalies confirmed by means of post-termination examination on the second fetus. The quantitative fluorescent PCR, the karyotype, and the comparative genomic hybridization-array analysis after amniocentesis were normal...
October 4, 2016: Clinical Dysmorphology
Youn Hee Jee, Nadine Sowada, Thomas C Markello, Iraj Rezvani, Guntram Borck, Jeffrey Baron
Linear growth failure can be caused by many different genetic abnormalities. In many cases, the genetic defect affects not only the growth plate, causing short stature, but also other organs/tissues causing additional clinical abnormalities. The proband was evaluated at 10 years of age for impaired postnatal linear growth (height 113.3 cm, -4.6 SDS), a bone age that was delayed by 5 years, dysmorphic facies, cognitive impairment, and central nervous system anomalies. His younger brother, presented only with growth failure at 10 months of age...
October 17, 2016: Clinical Genetics
Rachael L Cohen, Russell L Margolis
PURPOSE OF REVIEW: Spinocerebellar ataxia type 12 (SCA12) is a rare autosomal dominant neurodegenerative disease characterized by tremor, gait abnormalities, and neuropsychiatric syndromes. The location of the causative CAG/CTG expansion mutation in PPP2R2B, a gene encoding regulatory units of the protein phosphatase 2A, may provide unique insights into the pathogenesis of neurodegeneration. RECENT FINDINGS: The first neuropathological examination of a brain from an SCA12 patient revealed both cerebellar and cerebral cortical atrophy, with a noted loss of Purkinje cells and no evidence of polyglutamine aggregates...
September 29, 2016: Current Opinion in Neurology
Y Lee, D K Lee, J M Lee, S J Chung, J J Lee, Y H Sohn, P H Lee
BACKGROUND AND PURPOSE: Although early cerebellar symptoms are one of the exclusive criteria in the diagnosis of progressive supranuclear palsy (PSP), cerebellar involvement in PSP is evident both clinically and pathologically. However, structural analysis focusing on the cerebellum has not been previously studied in patients with PSP. We aimed to evaluate cerebellar involvement in PSP using a magnetic resonance imaging-based segmental volumetric analysis. METHODS: We retrospectively enrolled 48 patients with PSP composed of 25 patients with PSP-Richardson's syndrome (RS) and 23 patients with pure akinesia with gait freezing, 39 patients with Parkinson's disease (PD) and 34 healthy controls...
October 16, 2016: European Journal of Neurology: the Official Journal of the European Federation of Neurological Societies
Navid Elmi Sadr, Bijan Samavat, Payam Mehrian, Alireza Hedayatfar
Introduction. Terson syndrome is described as intraocular hemorrhage in association with any type of intracranial hemorrhage and is associated with higher mortality rate and vision loss. Intraocular hemorrhage in Terson syndrome may be diagnosed using computed tomography but there are false positive results. Silicone oil which is widely used for internal tamponade of complicated retinal detachments has high attenuation on computed tomography and hyperintensity on T1-weighted magnetic resonance imaging that can mimic intraocular hemorrhage...
2016: Case Reports in Ophthalmological Medicine
Jan-Folkard Willms, Gerasimos Baltsavias, Jan-Karl Burkhardt, Silvia Ernst, Alexander A Tarnutzer
We discuss a case with combined vestibulocochlear and facial neuropathy mimicking a less urgent peripheral vestibular pattern of acute vestibular syndrome (AVS). With initial magnetic resonance imaging read as normal, the patient was treated for vestibular neuropathy until headaches worsened and a diagnosis of subarachnoid hemorrhage was made. On conventional angiography, a ruptured distal right-sided aneurysm of the anterior inferior cerebellar artery was diagnosed and coiled. Whereas acute vestibular loss usually points to a benign peripheral cause of AVS, combined neuropathy of the vestibulocochlear and the facial nerve requires immediate neuroimaging focusing on the cerebellopontine angle...
October 13, 2016: Journal of Stroke and Cerebrovascular Diseases: the Official Journal of National Stroke Association
Shubir Dutt, Richard J Binney, Hilary W Heuer, Phi Luong, Suneth Attygalle, Priyanka Bhatt, Gabe A Marx, Jonathan Elofson, Maria C Tartaglia, Irene Litvan, Scott M McGinnis, Bradford C Dickerson, John Kornak, Dana Waltzman, Lisa Voltarelli, Norbert Schuff, Gil D Rabinovici, Joel H Kramer, Clifford R Jack, Bruce L Miller, Howard J Rosen, Adam L Boxer
OBJECTIVE: To examine the utility and reliability of volumetric MRI in measuring disease progression in the 4 repeat tauopathies, progressive supranuclear palsy (PSP) and corticobasal syndrome (CBS), to support clinical development of new tau-directed therapeutic agents. METHODS: Six- and 12-month changes in regional MRI volumes and PSP Rating Scale scores were examined in 55 patients with PSP and 33 patients with CBS (78% amyloid PET negative) compared to 30 normal controls from a multicenter natural history study...
October 14, 2016: Neurology
Sung-Hee Kim, David S Zee, Sascha du Lac, Hyo Jung Kim, Ji-Soo Kim
OBJECTIVE: To describe the ocular motor abnormalities in 9 patients with a lesion involving the nucleus prepositus hypoglossi (NPH), a key constituent of a vestibular-cerebellar-brainstem neural network that ensures that the eyes are held steady in all positions of gaze. METHODS: We recorded eye movements, including the vestibulo-ocular reflex during head impulses, in patients with vertigo and a lesion involving the NPH. RESULTS: Our patients showed an ipsilesional-beating spontaneous nystagmus, horizontal gaze-evoked nystagmus more intense on looking toward the ipsilesional side, impaired pursuit more to the ipsilesional side, central patterns of head-shaking nystagmus, contralateral eye deviation, and decreased vestibulo-ocular reflex gain during contralesionally directed head impulses...
October 12, 2016: Neurology
Thimmineni Haritha
No abstract text is available yet for this article.
January 2016: Journal of the Association of Physicians of India
Chen-Jei Hong, Bruce A Hamilton
Zfp423 encodes a 30-zinc finger transcription factor that intersects several canonical signaling pathways. Zfp423 mutations result in ciliopathy-related phenotypes, including agenesis of the cerebellar vermis in mice and Joubert syndrome (JBTS19) and nephronophthisis (NPHP14) in humans. Unlike most ciliopathy genes, Zfp423 encodes a nuclear protein and its developmental expression is complex, leading to alternative proposals for cellular mechanisms. Here we show that Zfp423 is expressed by cerebellar granule cell precursors, that loss of Zfp423 in these precursors leads to cell-intrinsic reduction in proliferation, loss of response to Shh, and primary cilia abnormalities that include diminished frequency of both Smoothened and IFT88 localization...
October 2016: PLoS Genetics
Yun Tae Hwang, Solange Mabel Aliaga, Marta Arpone, David Francis, Xin Li, Belinda Chong, Howard Robert Slater, Carolyn Rogers, Lesley Bretherton, Matthew Hunter, Robert Heard, David Eugeny Godler
CGG repeat expansion >200 within FMR1, termed full mutation (FM), has been associated with promoter methylation, consequent silencing of gene expression and fragile X syndrome (FXS)-a common cause of intellectual disability and co-morbid autism. Unmethylated premutation (55-199 repeats) and FM alleles have been associated with fragile X related tremor/ataxia syndrome (FXTAS), a late onset neurodegenerative disorder. Here we present a 33-year-old male with FXS, with white matter changes and progressive deterioration in gait with cerebellar signs consistent with probable FXTAS; there was no evidence of any other cerebellar pathology...
October 1, 2016: American Journal of Medical Genetics. Part A
Sean D McEvoy, Amy Lee, Andrew Poliakov, Seth Friedman, Dennis Shaw, Samuel R Browd, Richard G Ellenbogen, Jeffrey G Ojemann, Christine L Mac Donald
Posterior fossa syndrome is a severe transient loss of language that frequently complicates resection of tumors of the cerebellum. The associated pathophysiology and relevant anatomy to this language deficit remains controversial. We performed a retrospective analysis of all cerebellar tumor resections at Seattle Children's Hospital from 2010 to 2015. Diffusion tensor imaging was performed on each of the patients as part of their clinical scan. Patients included in the study were divided into groups based on language functioning following resection: intact (N = 19), mild deficit (N = 19), and posterior fossa syndrome (N = 9)...
2016: NeuroImage: Clinical
Karl Frontzek, Manuela Pfammatter, Silvia Sorce, Assunta Senatore, Petra Schwarz, Rita Moos, Katrin Frauenknecht, Simone Hornemann, Adriano Aguzzi
Prions are the infectious agents causing transmissible spongiform encephalopathies (TSE), progressive, inexorably lethal neurological diseases. Antibodies targeting the globular domain (GD) of the cellular prion protein PrPC trigger a neurotoxic syndrome morphologically and molecularly similar to prion disease. This phenomenon raises the question whether such antibodies induce infectious prions de novo. Here we exposed cerebellar organotypic cultured slices (COCS) to the neurotoxic antibody, POM1. We then inoculated COCS homogenates into tga20 mice, which overexpress PrPC and are commonly utilized as sensitive indicators of prion infectivity...
2016: PloS One
Toshiyuki Sakai, Masahide Kondo, Hidekazu Tomimoto, Yuko Yamagishi
We report a 28-year-old woman with the overlap of Fisher syndrome and pharyngeal-cervical-brachial variant of Guillain-Barré syndrome associated with urinary retention and constipation. She showed total ophthalmoplegia, dysphagia, dysarthria, upper extremity weakness, cerebellar ataxia, slightly diminished superficial sensations in her hands and feet, urinary retention and constipation 14 days after preceding infection. Laboratory data showed elevations of antiganglioside antibodies to GT1b, GD1b, GQ1b, GD3 and GT1a in the IgG subclass...
September 28, 2016: Rinshō Shinkeigaku, Clinical Neurology
David Gasq, Morgane Lainard, Laure Kaluza, Philippe Dupui, David Amarantini
OBJECTIVE: When subjects present medically unexplained postural instability, a voluntary overcontrol of postural sway is often suspected. Aphysiologic postural imbalance may be detected in dynamic conditions on a servo-controlled platform (Equitest), but it remains difficult to objectify from static stabilometric evaluation. Our objective was to identify the key stabilometric parameters that allow to discriminate subjects with voluntary postural instability, control subjects and neurological patients with organic postural instability...
September 2016: Annals of Physical and Rehabilitation Medicine
Nicole A Strong, Nicholas F Love, Kristen M Brusky, Sara Salim
No abstract text is available yet for this article.
September 2016: PM & R: the Journal of Injury, Function, and Rehabilitation
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