Vascular gait dyspraxia.
PMID: 24715135 [PubMed - in process] (Source: Clinical Medicine)
Source: Clinical Medicine - March 1, 2014 Category: Journals (General) Authors: Briggs R, O'Neill D Tags: Clin Med Source Type: research
Novel De Novo SPOCK1 Mutation in a Proband with Developmental Delay, Microcephaly and Agenesis of Corpus Callosum.
We describe a female patient with a novel de novo SPOCK1 variant, which has not been previously been associated with a human phenotype. Her features include intellectual disability with dyspraxia, dysarthria, partial agenesis of corpus callosum, prenatal-onset microcephaly and atrial septal defect with aberrant subclavian artery. Previous genetic, cytogenomic and metabolic studies were unrevealing. At age 13 years, exome sequencing on the patient and her parents revealed a de novo novel missense mutation in SPOCK1 (coding for Testican-1) on chromosome 5q31: c.239A>T (p.D80V). This mutation affects a highly evolutionaril...
Source: European Journal of Medical Genetics - February 26, 2014 Category: Genetics & Stem Cells Authors: Dhamija R, Graham JM, Smaoui N, Thorland E, Kirmani S Tags: Eur J Med Genet Source Type: research
Long-Term White Matter Changes after Severe Traumatic Brain Injury: A 5-Year Prospective Cohort [EVIDENCE-BASED MEDICINE LEVEL 2]
CONCLUSIONS:
DTI changes in major white matter tracts persist up to 5 years after severe traumatic brain injury and are most pronounced in the corpus callosum and corona radiata. Limited structural change is noted in the interval between 2 and 5 years. (Source: American Journal of Neuroradiology)
Source: American Journal of Neuroradiology - January 13, 2014 Category: Radiology Authors: Dinkel, J., Drier, A., Khalilzadeh, O., Perlbarg, V., Czernecki, V., Gupta, R., Gomas, F., Sanchez, P., Dormont, D., Galanaud, D., Stevens, R. D., Puybasset, L., for NICER (Neuro Imaging for Coma Emergence and Recovery) Consortium Tags: EVIDENCE-BASED MEDICINE LEVEL 2 Source Type: research
A case of the black spot
We present a patient with biopsy proven reactive angiomatosis with histologically identical symptomatic lesions in the skin and brain that both followed the same time course–neurocutaneous angiomatosis. The timing of the improvement following treatment with propranolol is intriguing. (Source: Journal of Neurology, Neurosurgery and Psychiatry)
Source: Journal of Neurology, Neurosurgery and Psychiatry - October 9, 2013 Category: Neurosurgery Authors: Sharma, K., Craig, P., Calonje, E., Cohen, N., Milne, J., Fuller, G. Tags: Immunology (including allergy), Hypertension, Radiology, Connective tissue disease, Musculoskeletal syndromes, Vascularitis, Surgical diagnostic tests Association of British Neurologists (ABN) joint meeting with the Royal College of Physicians (RCP), Lo Source Type: research
Dopamine transporter (dat) imaging can be normal with neuropathologically confirmed cortiobasal degeneration
Conclusion
The differential diagnosis of parkinsonism, including CBS, CBD and PD, is important for patient management. The disease course, therapy and prognosis differ substantially from non–degenerative diseases, and between CBD and PD. Where there is diagnostic uncertainty, DAT scan can provide valuable additional information, and in CBS/CBD unilateral balanced reduction in tracer uptake has been observed in caudate and putamen (2) and suggested to be reliably abnormal in CBD. However, our three cases llustrate that a normal DAT scan can occur in CBS, and even in pathologically confirmed CBD. This study highlights ...
Source: Journal of Neurology, Neurosurgery and Psychiatry - October 9, 2013 Category: Neurosurgery Authors: Chaal, S., Rowe, J. Tags: Cranial nerves, Dementia, Drugs: CNS (not psychiatric), Movement disorders (other than Parkinsons), Parkinson's disease, Ophthalmology, Neuropathology, Memory disorders (psychiatry), Psychiatry of old age Association of British Neurologists (ABN) joint Source Type: research
Therapeutic Horse Riding Improves Cognition, Mood Arousal, and Ambulation in Children with Dyspraxia
The Journal of Alternative and Complementary Medicine , Vol. 0, No. 0. (Source: The Journal of Alternative and Complementary Medicine)
Source: The Journal of Alternative and Complementary Medicine - October 3, 2013 Category: Complementary Medicine Tags: article Source Type: research
FOXP1 mutations cause intellectual disability and a recognizable phenotype
We report on a male child with a 0.19 MB intragenic deletion that is predicted to result in haploinsufficiency of FOXP1. Review of our patient and others reported in the literature reveals an emerging phenotype of GDD/ID with moderate to severe speech delay where expressive speech is most severely affected. DVD appears not to be a distinct feature in this group. Facial features include a broad forehead, downslanting palpebral fissures, a short nose with broad tip, relative or true macrocephaly, a frontal hair upsweep and prominent digit pads. Autistic traits and other behavioral problems are likely to be associated with ...
Source: American Journal of Medical Genetics Part A - September 24, 2013 Category: Genetics & Stem Cells Authors: Anna K. Le Fevre, Sharelle Taylor, Neva H. Malek, Denise Horn, Christopher W. Carr, Omar A. Abdul‐Rahman, Sherindan O'Donnell, Trent Burgess, Marie Shaw, Jozef Gecz, Nicole Bain, Kerry Fagan, Matthew F. Hunter Tags: Clinical Report Source Type: research
Homozygous deletion in TUSC3 causing syndromic intellectual disability: A new patient
We report on a boy with a homozygous microdeletion 8p22, sizing 203 kb, encompassing the first exon of the TUSC3 gene, detected by SNP‐array analysis (Human Gene Chip 6.0; Affymetrix). Both nonconsanguineous parents come from a small Sicilian village and were heterozygous carriers of the microdeletion. The propositus had a few dysmorphic features and a moderate cognitive impairment. Verbal communication was impaired, with an inappropriate phonetic inventory, important phono‐articolatory distortions, and bucco‐phonatory dyspraxia. Comprehension was possible for simple sentences. Behavior was characterized by motor i...
Source: American Journal of Medical Genetics Part A - July 4, 2013 Category: Genetics & Stem Cells Authors: Sara Loddo, Valentina Parisi, Viola Doccini, Tiziana Filippi, Laura Bernardini, Paola Brovedani, Federica Ricci, Antonio Novelli, Agatino Battaglia Tags: Clinical Report Source Type: research
Developmental kinesiology: Three levels of motor control in the assessment and treatment of the motor system
Summary: Three levels of sensorimotor control within the central nervous system (CNS) can be distinguished. During the neonatal stage, general movements and primitive reflexes are controlled at the spinal and brain stem levels. Analysis of the newborn's spontaneous general movements and the assessment of primitive reflexes is crucial in the screening and early recognition of a risk for abnormal development. Following the newborn period, the subcortical level of the CNS motor control emerges and matures mainly during the first year of life. This allows for basic trunk stabilization, a prerequisite for any phasic movement an...
Source: Journal of Bodywork and Movement Therapies - May 16, 2013 Category: Physiotherapy Authors: Alena Kobesova, Pavel Kolar Tags: Developmental Physiology Source Type: research
Social participation by children with developmental coordination disorder compared to their peers.
Conclusions: The achievement of a normal lifestyle by youngsters with DCD is upset in all spheres of life. The impact of DCD on the level of participation of these youngsters is quite significant and affects all lifestyles measured in this study. Children with mixed dyspraxia are particularly affected. These facts must be taken into consideration by anyone involved in the lives of these youngsters. Implications for Rehabilitation It is necessary to encourage social participation of DCD sufferers aged 5-13 in all spheres of life. Special attention should be paid to those who have a speech disorder. Life habits concerning co...
Source: Disability and Rehabilitation - April 19, 2013 Category: Rehabilitation Authors: Sylvestre A, Nadeau L, Charron L, Larose N, Lepage C Tags: Disabil Rehabil Source Type: research
Neurocognitive variance and neurological underpinnings of the X and Y chromosomal variations
This report discusses what is known about clinical variability in the XY syndromes collectively evaluated through careful multidisciplinary clinical evaluation including the clinical and neurobehavioral aspects of these conditions. Variability in clinical and cognitive functioning may reflect skewed X inactivation, mosaicism, or epigenetic factors that warrant further investigation. © 2013 Wiley Periodicals, Inc. (Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics)
Source: American Journal of Medical Genetics Part C: Seminars in Medical Genetics - November 15, 2012 Category: Genetics & Stem Cells Authors: Andrea Gropman, Carole A. Samango‐Sprouse Tags: Article Source Type: research
