Results 41 to 50 of about 19,794 (219)

Nistagmus Downbeat Nystagmus Due to Oxcarbazepine Intoxication

Türk Nöroloji Dergisi, 2009
Downbeat nystagmus is associated primarily with structural lesions of the central nervous system and may be observed as a manifestation of drug intoxication.
Gül Yalçın Çakmaklı, Neşe Dericioğlu   +1 more
doaj  

Light cupula: one case report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2020
DOI:10.3969/j.issn.1672⁃6731.2020.10 ...
Jia⁃lüe HUA
doaj  

Ataxia with oculomotor apraxia type 2: a clinical, pathologic, and genetic study [PDF]

, 2006
BACKGROUND: Ataxia with oculomotor apraxia type 2 (AOA2) is characterized by onset between age 10 and 22 years, cerebellar atrophy, peripheral neuropathy, oculomotor apraxia (OMA), and elevated serum alpha-fetoprotein (AFP) levels. Recessive mutations in
BANFI S, BARBIERI, FABRIZIO, CASALI C., CHESSA L, CRISCUOLO C, DE MICHELE, GIUSEPPE, DI GIANDOMENICO S, FILLA, ALESSANDRO, GALLOSTI L, GRIECO GS, MANCINI P, PIANE M, PIERELLI F, RIZZUTO N, SACCA', FRANCESCO, SANTORELLI FM   +15 more
core  

Pathological and non-pathological irregularities of nystagmus.

Collegium antropologicum, 2014
Irregularities of nystagmus can be found almost in every electronystagmographic record, but only a few are pathological. In this investigation, the authors try to define the border line between pathological and nonpathological irregularities of nystagmus and according to this measure the diagnostic use of findings of irregularities of nystagmus.
Starčević, Radan, Velepič, Marko, Bonifačić, David   +2 more
openaire   +5 more sources

Nance‐Horan Syndrome: Further Delineation of the Affected Male and the Female Carrier Phenotypes

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nance‐Horan syndrome (NHS; OMIM 302350) is a rare, X‐linked syndrome characterized by bilateral congenital cataracts leading to profound vision loss, specific dental anomalies including characteristic screwdriver blade‐shaped incisors, facial anomalies, and intellectual disability.
Maria K. Haanpää, Chad R. Haldeman‐Englert, Marja Hietala, Melisa S. Tanverdi, Patrick P. Koty, Diana Brightman, Eniolami Dosunmu, Shailja Tibrewal, Savleen Kaur, Anupriya Kaur, Raj Kumar Verma, Alejandra G. de Alba Campomanes, Virginia Utz, Anne M. Slavotinek, Cynthia Curry   +14 more
wiley   +1 more source

Bulbar infarction with upbeat nystagmus as the main sign: one case report

Chinese Journal of Contemporary Neurology and Neurosurgery, 2020
DOI:10.3969/j.issn.1672⁃6731.2020.11 ...
Lei ZHAO, Jing WU, Chun⁃yan JIANG, You⁃rong DONG, Wei CHEN, Jian⁃ren LIU   +5 more
doaj  

Widespread inflammation in CLIPPERS syndrome indicated by autopsy and ultra-high-field 7T MRI [PDF]

, 2016
OBJECTIVE: To examine if there is widespread inflammation in the brain of patients with chronic lymphocytic inflammation with pontine perivascular enhancement responsive to steroids (CLIPPERS) syndrome by using histology and ultra-high-field MRI at 7.0T.
Blaabjerg, Morten, Illes, Zsolt, Kerrn-Jespersen, Bjørg Morell, Kondziella, Daniel, Kristensen, Bjarne Winther, Lassmann, Hans, Lindelof, Mette, Niendorf, Thoralf, Paul, Friedemann, Ruprecht, Klemens, Sinnecker, Tim   +10 more
core   +3 more sources

Infantile‐Onset Ascending Hereditary Spastic Paraplegia due to a Homozygous ALS2 Exons 24–25 Deletion: Expanding the Genotypic Spectrum

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT We describe a novel homozygous intragenic deletion in the ALS2 gene in an 8‐year‐old boy with Infantile‐onset Ascending Hereditary Spastic Paraplegia (IAHSP) and oculomotor apraxia, thereby contributing to the expanding genetic landscape of ALS2‐related disorders.
Vito Luigi Colona, Maria Gnazzo, Silvia Genovese, Gessica Vasco, Lorena Travaglini, Maurizio Sabbadini, Marina Macchiaiolo, Francesco Nicita, Jacopo Sartorelli, Carmelo Piscopo, Enrico Castelli, Enrico Bertini, Andrea Bartuli, Antonio Novelli, Gessica Della Bella, Davide Vecchio   +15 more
wiley   +1 more source

Genetic and Phenotypic Features of the Five Known Polyaminopathies: A Critical Narrative Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Polyaminopathies are a recently described family of rare genetic neurodevelopmental disorders. Polyaminopathies disrupt the biosynthesis of the primary polyamines: putrescine, spermidine, and spermine. Snyder–Robinson syndrome results from hemizygous loss‐of‐function variants in the spermine synthase (SMS) gene, resulting in decreased or ...
Elizabeth A. VanSickle, Sara M. Sarasua, Tracy Lowe, Christopher L. Farrell, Luigi Boccuto, Charles Schwartz, Anthony E. Pegg, Angela Peron, Victor Faundes, Mythily Ganapathi, Wendy K. Chung, Alban Ziegler, Floris Hofstede, Clément Prouteau, Katharina Steindl, Colleen Olson, Orrin Devinsky, Teresa L. Mastracci, Robert A. Casero Jr., Tracy Murray Stewart, Susan Gilmour, Teri Koerner, Mary Jo Kutler, Surender Rajasekaran, Julianne Michael, André S. Bachmann, Caleb P. Bupp   +26 more
wiley   +1 more source

UNERTAN SYNDROME: A CASE SERIES DEMONSTRATING HUMAN DEVOLUTION [PDF]

, 2007
A large family with six individuals exhibiting the Unertan syndrome (UTS)was identified residing in southern Turkey. All of the individuals had mental impairments and walked on all four extremities.
Karaca, Dr. Sibel, Tan, Dr. Meliha, Tan, Prof. Dr. Uner   +2 more
core