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Kamille Abdool, Karan Seegobin, Kanterpersad Ramcharan, Adrian Alexander, Leandra Julien-Legen, Stanley Lawrence Giddings, Samuel Aboh, Fidel Rampersad
We report a case of a 46-year-old man presenting with a progressive cognitive decline, ataxic gait, urinary incontinence for 4 months and neuroimaging consistent with normal pressure hydrocephalus. The atypical presentation of a progressively worsening dysphasia and a right hemiparesis dismissed as a vascular event 1 month earlier associated with normal pressure hydrocephalus prompted further investigations confirming neurosyphilis also manifesting as dementia paralytica. Treatment using consensus guidelines led to resumption of activities of daily living...
September 30, 2016: Neurology International
Chih-Ping Chen, Shuan-Pei Lin, Schu-Rern Chern, Peih-Shan Wu, Yen-Ni Chen, Shin-Wen Chen, Chen-Chi Lee, Dai-Dyi Town, Chien-Wen Yang, Wayseen Wang
OBJECTIVE: To present molecular cytogenetic characterization of an inverted duplication of proximal chromosome 15 [inv dup(15)] presenting as a small supernumerary marker chromosome (sSMC) associated with the inv dup(15) syndrome. CASE REPORT: A 35-year-old woman underwent amniocentesis because of advanced maternal age at 27 weeks of gestation, which revealed an sSMC that was confirmed by fluorescence in situ hybridization (FISH) to be derived from chromosome 15...
October 2016: Taiwanese Journal of Obstetrics & Gynecology
Alessandro Didonna, Puneet Opal
Importance: The hereditary progressive ataxias comprise genetic disorders that affect the cerebellum and its connections. Even though these diseases historically have been among the first familial disorders of the nervous system to have been recognized, progress in the field has been challenging because of the large number of ataxic genetic syndromes, many of which overlap in their clinical features. Observations: We have taken a historical approach to demonstrate how our knowledge of the genetic basis of ataxic disorders has come about by novel techniques in gene sequencing and bioinformatics...
October 17, 2016: JAMA Neurology
Matías Alvarez-Saavedra, Yves De Repentigny, Doo Yang, Ryan W O'Meara, Keqin Yan, Lukas E Hashem, Lemuel Racacho, Ilya Ioshikhes, Dennis E Bulman, Robin J Parks, Rashmi Kothary, David J Picketts
Exercise has been argued to enhance cognitive function and slow progressive neurodegenerative disease. Although exercise promotes neurogenesis, oligodendrogenesis and adaptive myelination are also significant contributors to brain repair and brain health. Nonetheless, the molecular details underlying these effects remain poorly understood. Conditional ablation of the Snf2h gene impairs cerebellar development producing mice with poor motor function, progressive ataxia, and death between postnatal days 25-45...
October 11, 2016: Cell Reports
Chang Ho Hwang, Dong Jin Park, Gyu Yeol Kim
A 58-year-old woman, who had undergone total gastrectomy for early gastric cancer 9 years previously, visited the outpatient clinic complaining of progressive difficulty in walking for 15 d. Laboratory examinations showed macrocytic anemia and a decreased serum vitamin B12 concentration and increased serum concentrations of folate, vitamin E and copper. Magnetic resonance imaging showed multifocal high signal intensities along the posterior column of the cervical and thoracic spinal cord. Treatment consisted of intramuscular injections of vitamin B12 for 7 d, which increased her serum level of vitamin B12 to normal...
October 7, 2016: World Journal of Gastroenterology: WJG
Nadeem Toodayan, Christopher J Boes
The eponymous legacy of Sir William Richard Gowers (1845-1915) was the subject of a comprehensive appraisal first written for this journal late last year. Since the completion of that work, a revealing February 1903 letter has come to light recording, amongst other things, Gowers' firsthand and somewhat private opinions concerning some of his own eponymous contributions to medicine. This addendum to the primary author's original article will review and contextualize this very interesting find as it relates to Gowers' eponymous legacy...
August 11, 2016: Journal of the History of the Neurosciences
Salleh N Ehaideb, Elizabeth A Wignall, Junko Kasuya, William H Evans, Atulya Iyengar, Haley L Koerselman, Anthony J Lilienthal, Alexander G Bassuk, Toshihiro Kitamoto, J Robert Manak
OBJECTIVE: Genetically tractable fruit flies have been used for decades to study seizure disorders. However, there is a paucity of data specifically correlating fly and human seizure phenotypes. We have previously shown that mutation of orthologous PRICKLE genes from flies to humans produce seizures. This study aimed to determine whether the prickle-mediated seizure phenotypes in flies closely parallel the epilepsy syndrome found in PRICKLE patients. METHODS: Virtually all fly seizure studies have relied upon characterizing seizures that are evoked...
September 2016: Annals of Clinical and Translational Neurology
Hae-Yeon Kwon, So-Yoon Ahn
[Purpose] To determine whether the Gross Motor Performance Measurement is useful in predicting the future score of the Pediatric Balance Scale, this study examined the correlation between the 2 measurement tools with respect to movement disorder in children with cerebral palsy. [Subjects and Methods] A total of 38 study subjects with cerebral palsy were divided into 3 groups (spastic, dyskinetic, and ataxic) by means of systematic proportional stratified sampling in accordance with the characteristics of their movement disorders...
August 2016: Journal of Physical Therapy Science
Duncan McKechnie, Julie Pryor, Murray J Fisher
PURPOSE: To examine patient characteristics that contribute to falls in the inpatient traumatic brain injury (TBI) rehabilitation setting. METHOD: A three-round modified Delphi technique that engaged a multidisciplinary panel of 11 health experts was used. Group median score and disagreement index were used to measure agreement between participants about patient characteristics that contribute to falls. RESULTS: All panel members participated in each questionnaire round...
September 14, 2016: Disability and Rehabilitation
Abby M Moskowitz, Newell Belnap, Ashley L Siniard, Szabolcs Szelinger, Ana M Claasen, Ryan F Richholt, Matt De Both, Jason J Corneveaux, Chris Balak, Ignazio S Piras, Megan Russell, Amanda L Courtright, Sampath Rangasamy, Keri Ramsey, David W Craig, Vinodh Narayanan, Matt J Huentelman, Isabelle Schrauwen
Recently, mutations in the zinc finger MYND-type containing 11 (ZMYND11) gene were identified in patients with autism spectrum disorders, intellectual disability, aggression, and complex neuropsychiatric features, supporting that this gene is implicated in 10p15.3 microdeletion syndrome. We report a novel de novo variant in the ZMYND11 gene (p.Ser421Asn) in a patient with a complex neurodevelopmental phenotype. The patient is a 24-yr-old Caucasian/Filipino female with seizures, global developmental delay, sensorineural hearing loss, hypotonia, dysmorphic features, and other features including a happy disposition and ataxic gait similar to Angelman syndrome...
September 2016: Cold Spring Harbor Molecular Case Studies
Karin Buiting, Charles Williams, Bernhard Horsthemke
Angelman syndrome is a rare neurogenetic disorder that is characterized by microcephaly, severe intellectual deficit, speech impairment, epilepsy, EEG abnormalities, ataxic movements, tongue protrusion, paroxysms of laughter, abnormal sleep patterns, and hyperactivity. Angelman syndrome results from loss of function of the imprinted UBE3A (ubiquitin-protein ligase E3A) gene on chromosome 15q11.2-q13. This loss of function can be caused by a mutation on the maternal allele, a 5-7 Mb deletion of the maternally inherited chromosomal region, paternal uniparental disomy of chromosome 15, or an imprinting defect...
October 2016: Nature Reviews. Neurology
Anand Venkatraman, Puneet Opal
The ataxic syndrome associated with Anti-Yo antibody, or Purkinje cell cytoplasmic antibody type 1 (PCA1), is the most common variant of paraneoplastic cerebellar degeneration (PCD). The typical presentation involves the subacute development of pancerebellar deficits with a clinical plateau within 6 months. The vast majority of cases have been reported in women with pelvic or breast tumors. Magnetic resonance imaging of the brain is often normal in the early stages, with cerebellar atrophy seen later. The underlying mechanism is believed to be an immunological reaction to cerebellar degeneration-related protein 2 (CDR2), a protein usually found in the cerebellum that is ectopically produced by tumor cells...
August 2016: Annals of Clinical and Translational Neurology
Jean-Marie Cuisset, S Sukno, A Trauffler, P Latour, D Dobbelaere, L Michaud, L Vallée
BACKGROUND: Niemann-Pick disease type C is a rare inherited neurodegenerative disease involving impaired intracellular lipid trafficking and accumulation of glycolipids in various tissues, including the brain. Miglustat, a reversible inhibitor of glucosylceramide synthase, has been shown to be effective in the treatment of progressive neurological manifestations in pediatric and adult patients with Niemann-Pick disease type C, and has been used in that indication in Europe since 2010...
2016: Journal of Medical Case Reports
Gessica Vasco, Simone Gazzellini, Maurizio Petrarca, Maria Luisa Lispi, Alessandra Pisano, Marco Zazza, Gessica Della Bella, Enrico Castelli, Enrico Bertini
Friedreich's ataxia is the most common autosomal recessive form of neurodegenerative ataxia. We present a longitudinal study on the gait pattern of children and adolescents affected by Friedreich's ataxia using Gait Analysis and the Scale for the Assessment and Rating of Ataxia (SARA). We assessed the spectrum of changes over 12 months of the gait characteristics and the relationship between clinical and instrumental evaluations. We enrolled 11 genetically confirmed patients affected by Friedreich's ataxia in this study together with 13 normally developing age-matched subjects...
2016: PloS One
Roeland B van Leeuwen, Bart W Smits, Richard J Rodenburg, Baziel G van Engelen
In patients with a triad of sensory ataxic neuropathy, dysarthria, and ophthalmoparesis (SANDO), the presenting features are mainly ataxia or ptosis. SANDO patients often have impaired balance and gait, which is not surprising considering the combination of sensory ataxic neuropathy, and additional symptoms like cerebellar ataxia and limb girdle weakness. We describe a SANDO patient who noticed an increasingly impaired balance and gait, without any dizziness. Neurological investigation revealed an external ophthalmeplegia and a cerebellar ataxia; the head impulse test was not reliable because of eye movement disorders...
September 2016: Journal of Clinical Neuromuscular Disease
Tao Xie, Daniel Appelbaum, Jacqueline Bernard, Mahesh Padmanaban, Yonglin Pu, Christopher Gomez
It is unclear whether patients with spinocerebellar ataxia type 6 (SCA6) have parkinsonism and striatal dopamine transporter (DAT) loss, based on previously small size studies without well-matched controls. A study with a larger number of patients and both age- and gender-matched healthy controls (HCs) is needed for a better answer to this question. Twelve genetically confirmed ataxic SCA6 patients (six male six female, age 65.3 ± 11.2 years), and eight age- and gender-matched HCs (five male three female, age 71...
November 2016: Journal of Neurology
Sriram Jayabal, Lovisa Ljungberg, Alanna J Watt
KEY POINTS: Spinocerebellar ataxia type 6 (SCA6) is a midlife-onset neurodegenerative disease caused by a CACNA1A mutation; CACNA1A is also implicated in cerebellar development. We have previously shown that when disease symptoms are present in midlife in SCA6(84Q/84Q) mice, cerebellar Purkinje cells spike with reduced rate and precision. In contrast, we find that during postnatal development (P10-13), SCA6(84Q/84Q) Purkinje cells spike with elevated rate and precision. Although surplus climbing fibres are linked to ataxia in other mouse models, we found surplus climbing fibre inputs on developing (P10-13) SCA6(84Q/84Q) Purkinje cells when motor deficits were not detected...
August 17, 2016: Journal of Physiology
Wen-Juh Hwang
Proprioceptive deafferentation of spinal cord origin can cause pseudoathetosis, sensory ataxic gait, or both. The co-existence of pseudoathetosis and sensory ataxic gait caused by a surgically treatable condition of the spinal cord has been rarely reported. An 80-year-old man with cervical spondylotic myelopathy presented with severe sensory ataxic gait which confined him to a wheelchair. He also had poor control of his hands due to the pseudoathetoid movements of the fingers, which prevented him from sustaining constant muscle contraction...
August 11, 2016: Journal of Clinical Neuroscience: Official Journal of the Neurosurgical Society of Australasia
C R Hernandez-Castillo, I Vaca-Palomares, F Barrios, L Martinez, M-C Boll, J Fernandez-Ruiz
BACKGROUND AND PURPOSE: There is a scarcity of information on the effect of white matter degeneration in patients with spinocerebellar ataxia type 7. Therefore, we investigated the WM integrity in a large group of patients with spinocerebellar ataxia type 7 by using Tract-Based Spatial Statistics. MATERIALS AND METHODS: Thirty-three patients with a molecular diagnosis of spinocerebellar ataxia type 7 and their age- and sex-matched healthy controls participated in this study...
August 11, 2016: AJNR. American Journal of Neuroradiology
Ujjawal Roy, Ajay Panwar, Alak Pandit, Susanta Kumar Das, Bhushan Joshi
Metronidazole is an antimicrobial agent mainly used in the treatment of several protozoal and anaerobic infections, additionally, is often used in hepatic encephalopathy and Crohn disease. Apart from peripheral neuropathy, metronidazole can also cause symptoms of central nervous system dysfunction like ataxic gait, dysarthria, seizures, and encephalopathy which may result from both short term and chronic use of this drug and is collectively termed as "metronidazole induced encephalopathy"(MIE). Neuroimaging forms the backbone in clinching the diagnosis of this uncommon entity, especially in cases where there is high index of suspicion of intoxication...
June 2016: Journal of Clinical and Diagnostic Research: JCDR
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