Results 61 to 70 of about 6,098 (248)

A Case of Juvenile Huntington Disease in a 6-Year-Old Boy [PDF]

Journal of Movement Disorders, 2010
Huntington disease is a neurodegenerative disorder distinguished by the triad of dominant inheritance, choreoathetosis and dementia, usually with onset in the fourth and fifth decades.
Jun-Sang Sunwoo, Soon-Tae Lee, Manho Kim
doaj   +1 more source

An early-onset recessive cerebellar disorder with distal amyotrophy and, in two patients, gross myoclonia: A probable ataxia telangiectasia variant [PDF]

, 1995
We report a family of 4 siblings from a non-consanguineous marriage, presenting with an early onset recessive cerebellar ataxia and progressive distal limb wasting. Ocular or other telangiectasias were absent.
Graaf, A.S. (A.) de, Jong, G. (G.) de, Kleijer, W.J. (Wim)   +2 more
core   +1 more source

Identification of Additional Cases of Severe Neonatal GABA‐Transaminase Deficiency

JIMD Reports, Volume 67, Issue 1, January 2026.
ABSTRACT GABA‐transaminase (GABA‐T) deficiency is a rare disorder of GABA metabolism characterized by neonatal encephalopathy, epilepsy, hypotonia and intellectual disability. It is caused by biallelic pathogenic variants in the ABAT gene. We report a case of a newborn female born to a G10P5 mother, with abnormal fetal movements and polyhydramnios in ...
Deima Alammary, Tisiana Low, Ganesh Srinivasan, Marie‐Claude Dery, Mahmoud Almutadares, Samantha Marin, Mubeen F. Rafay, Katya Rozovsky, Patrick Frosk   +8 more
wiley   +1 more source

Does the classification of cerebral palsy influence caries experience in children and adolescents?

Brazilian Journal of Oral Sciences, 2015
Aim: To evaluate the influence of the classification of cerebral palsy (CP) on the caries experience in children and adolescents, and determine the types of teeth most affected by dental caries. Methods: A total of 181 individuals with CP, aged 8.30±4.10
Michele Baffi Diniz, Renata Oliveira Guaré, Maria Cristina Duarte Ferreira, Maria Teresa Botti Rodrigues Santos   +3 more
doaj   +1 more source

Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease [PDF]

, 2016
INTRODUCTION: Peripheral nerve involvement is common in mitochondrial disease but often unrecognised due to the prominent central nervous system features.
Bhattacharya, K, Christodoulou, J, Clark, D, Ellaway, C, Farrar, M, Menezes, MP, Ouvrier, R, Pitt, M, Rahman, S, Ryan, MM, Sampaio, H, Thorburn, DR, Ware, TL, Wedatilake, Y   +13 more
core   +1 more source

Whole Exome Sequencing in Patients With Developmental Delay/Intellectual Disability (DD/ID), Epilepsy and the First Turkish Patient Diagnosed With BCL11A‐Related Intellectual Disability

Molecular Genetics &Genomic Medicine, Volume 14, Issue 1, January 2026.
In this study, WES analysis was performed on patients with DD/ID, global developmental delay, epilepsy, and multiple congenital anomalies who could not be diagnosed through karyotype, CMA, and other examinations. Nineteen pathogenic/likely pathogenic (P/LP) variants were identified in 19 patients, and with the confirmation made in the parents and ...
Nejmiye Akkus, Abdullah Canbal, Seda Guneysu, Erkan Gokce, Pakize Duzgun, İbrahim Barıs   +5 more
wiley   +1 more source

IDIOPATHIC HYPOPARATHYROIDISM PRESENTING AS STATUS EPILEPTICUS AND CHOREOATHETOSIS

National Journal of Medical Research, 2014
Idiopathic hypoparathyroidism presenting as convulsions along with choreoathetosis simultaneously is a distinctly rare scenario. We present a case of Idiopathic hypoparathyroidism who presented with status epilepticus along with extrapyramidal ...
Subrata Chakrabarti
doaj  

Paraneoplastic Choreoathetosis in a Patient with Small Cell Lung Carcinoma and Anti-CRMP5/CV2: A Case Report

Case Reports in Neurology, 2016
Introduction: The occurrence of more or less monosymptomatic paraneoplastic choreoathetosis associated with anti-CRMP5/CV2 antibodies is rare. Typically, such autoantibodies are associated with a more classical syndrome - paraneoplastic encephalomyelitis.
Dogu Aydin, Finn Somnier, Lisbeth H. Lassen   +2 more
doaj   +1 more source

Instrumented assessment of motor function in dyskinetic cerebral palsy: a systematic review

Journal of NeuroEngineering and Rehabilitation, 2020
Background In this systematic review we investigate which instrumented measurements are available to assess motor impairments, related activity limitations and participation restrictions in children and young adults with dyskinetic cerebral palsy. We aim
Helga Haberfehlner, Marije Goudriaan, Laura A. Bonouvrié, Elise P. Jansma, Jaap Harlaar, R. Jeroen Vermeulen, Marjolein M. van der Krogt, Annemieke I. Buizer   +7 more
doaj   +1 more source

Diagnostic Yield and Genotype–Phenotype Correlations of Clinical Exome Sequencing in Hereditary Spastic Paraparesis: Experience From Eastern Spain

European Journal of Neurology, Volume 33, Issue 1, January 2026.
Clinical exome sequencing (CES) was performed on 108 Spanish patients with suspected hereditary spastic paraparesis (HSP), using a virtual 129‐gene panel and HPO‐based variant filtering. A molecular diagnosis was achieved in 53% of cases, with 21 causative genes identified (8 novel variants), SPAST (AD) and SPG7 (AR) being the most frequent genetic ...
Lidón Carretero‐Vilarroig, Rafael Sivera, Raquel Baviera, Carmen Espinós, Nuria Muelas, Juan Francisco Vazquez‐Costa, Elena Aller, Luis Bataller, Teresa Jaijo   +8 more
wiley   +1 more source