Atypical Manifestations in Glut1 Deficiency Syndrome
Glucose transporter type 1 deficiency syndrome is a genetically determined, treatable, neurologic disorder that is caused by an insufficient transport of glucose into the brain. It is caused by a mutation in the SCL2A1 gene, which is so far the only known to be associated with this condition. Glucose transporter type 1 deficiency syndrome consists of a wide clinical spectrum that usually presents with cognitive impairment, epilepsy, paroxysmal exercise-induced dyskinesia, acquired microcephaly, hemolytic anemia, gait disturbance, and dyspraxia in different combinations. However, there are other clinical manifestations that...
Source: Journal of Child Neurology - July 11, 2016 Category: Neurology Authors: De Giorgis, V., Varesio, C., Baldassari, C., Piazza, E., Olivotto, S., Macasaet, J., Balottin, U., Veggiotti, P. Tags: Original Articles Source Type: research
Alien Hand, Restless Brain: Salience Network and Interhemispheric Connectivity Disruption Parallel Emergence and Extinction of Diagonistic Dyspraxia
Ben Ridley, Marion Beltramone, Jonathan Wirsich, Arnaud Le Troter, Eve Tramoni, Sandrine Aubert, Sophie Achard, Jean-Philippe Ranjeva, Maxime Guye, Olivier Felician (Source: Frontiers in Human Neuroscience)
Source: Frontiers in Human Neuroscience - June 21, 2016 Category: Neuroscience Source Type: research
An observational study of implicit motor imagery using laterality recognition of the hand after stroke.
CONCLUSION: Implicit motor imagery is affected in a significant number of patients after stroke with these deficits related to lesions to the motor networks as well as other deficits seen after stroke. This research provides new insights into how laterality recognition is related to a number of other deficits after stroke, including the mental rotation of 3D objects, attention and dyspraxia. Further research is required to determine if treatment programmes can improve deficits in laterality recognition and impact functional outcomes after stroke.
PMID: 27294678 [PubMed - as supplied by publisher] (Source: Brain Injury)
Source: Brain Injury - June 15, 2016 Category: Neurology Tags: Brain Inj Source Type: research
Activity and MeCP2 ‐dependent regulation of nNOS levels in enteric neurons
Conclusions & InferencesMeCP2 is required for proper GI motility and normal nNOS levels. Neuronal nitric oxide synthase imbalances could mediate the GI dysmotility seen in RTT. Disruption of MeCP2‐dependent HSP may be the basis for aberrant nNOS levels and hence GI dysmotility in MeCP2‐KO and RTT.
MeCP2 is required for proper GI motility and normal nNOS levels. nNOS imbalances could mediate the GI dysmotility seen in RTT. Disruption of MeCP2‐dependent HSP may be the basis for aberrant nNOS levels and hence GI dysmotility in MeCP2‐KO and RTT. (Source: Neurogastroenterology and Motility)
Source: Neurogastroenterology and Motility - June 1, 2016 Category: Gastroenterology Authors: G. Wahba, S. C. Schock, S. Cudd, D. Grynspan, P. Humphreys, W. A. Staines Tags: Original Article Source Type: research
BRAT1 mutations present with a spectrum of clinical severity
Mutations in BRAT1, encoding BRCA1‐associated ATM activator 1, are associated with a severe phenotype known as rigidity and multifocal seizure syndrome, lethal neonatal (RMFSL; OMIM # 614498), characterized by intractable seizures, hypertonia, autonomic instability, and early death. We expand the phenotypic spectrum of BRAT1 related disorders by reporting on four individuals with various BRAT1 mutations resulting in clinical severity that is either mild or moderate compared to the severe phenotype seen in RMFSL. Representing mild severity are three individuals (Patients 1–3), who are girls (including two sisters, Patie...
Source: American Journal of Medical Genetics Part A - May 31, 2016 Category: Genetics & Stem Cells Authors: Siddharth Srivastava, Heather E. Olson, Julie S. Cohen, Cynthia S. Gubbels, Sharyn Lincoln, Brigette Tippin Davis, Layla Shahmirzadi, Siddharth Gupta, Jonathan Picker, Timothy W. Yu, David T. Miller, Janet S. Soul, Andrea Poretti, SakkuBai Naidu Tags: Original Article Source Type: research
Activity and MeCP2‐dependent regulation of nNOS levels in enteric neurons
Conclusions & InferencesMeCP2 is required for proper GI motility and normal nNOS levels. Neuronal nitric oxide synthase imbalances could mediate the GI dysmotility seen in RTT. Disruption of MeCP2‐dependent HSP may be the basis for aberrant nNOS levels and hence GI dysmotility in MeCP2‐KO and RTT.
MeCP2 is required for proper GI motility and normal nNOS levels. nNOS imbalances could mediate the GI dysmotility seen in RTT. Disruption of MeCP2‐dependent HSP may be the basis for aberrant nNOS levels and hence GI dysmotility in MeCP2‐KO and RTT. (Source: Neurogastroenterology and Motility)
Source: Neurogastroenterology and Motility - May 31, 2016 Category: Gastroenterology Authors: G. Wahba, S. C. Schock, S. Cudd, D. Grynspan, P. Humphreys, W. A. Staines Tags: Original Article Source Type: research
[Electromyographic assessment of the temporalis muscle prior to a lengthening myoplasty in patients with Moebius syndrome].
CONCLUSION: Electromyographic study of the temporalis can detect muscle denervation or atrophy, or dyspraxia, and guide decision to encourage or discourage performing myoplasty, or enhance rehabilitation programme and make the patient aware of possibly modest outcome.
PMID: 27212437 [PubMed - as supplied by publisher] (Source: Annales de Chirurgie Plastique et Esthetique)
Source: Annales de Chirurgie Plastique et Esthetique - May 18, 2016 Category: Cosmetic Surgery Authors: Renault F, Sergent B, Charpillet V, Gitiaux C, Vazquez MP Tags: Ann Chir Plast Esthet Source Type: research
Callosal Disconnection Syndrome Associated with Relapsing Polychondritis.
Authors: Baba T, Kanno S, Shijo T, Nishio Y, Iizuka O, Kamimura N, Ishii T, Mori E
Abstract
Relapsing polychondritis (RP) is a rare inflammatory disorder of the cartilagenous structures, and it sometimes involves the central nervous system. Encephalitis associated with RP causes a wide variety of symptoms according to the affected sites. We herein report the first case of 72-year-old right-handed man who developed acute meningoencephalitis associated with RP involving the corpus callous. After immunosuppressive therapy, his symptoms dramatically improved, but difficulty in performing bimanual movements wit...
Source: Internal Medicine - May 8, 2016 Category: Internal Medicine Tags: Intern Med Source Type: research
Comparison of motor praxis and performance in children with varying levels of developmental coordination disorder.
This study developed a battery of tests to assess limb praxis using a praxis imagery questionnaire, gesture representation, and questions about knowledge of object use. In the comparison of subtests within the praxis test, significant differences were observed across groups on the praxis imagery questionnaire and gesture representation tests but not on knowledge of object use. Similar results were observed in the correlation analyses, in which a weak relationship between MABC-2 and praxis tests was observed. The DCD group had lower scores on the praxis imagery questionnaire, whereas the group at risk of DCD had lower score...
Source: Human Movement Science - April 17, 2016 Category: Neurology Authors: Chang SH, Yu NY Tags: Hum Mov Sci Source Type: research
Novel PTEN mutation with leukoencephalopathy, basal ganglia calcification and action tremor
A 36-year-old security officer presented with a 2.5-year history of left upper limb tremor, which worsened on pouring water. There was no slowing of movements, lower limb tremor, or improvement with alcohol. His four-year-old daughter was born prematurely and had been investigated for developmental delay in walking after her 2nd birthday, general clumsiness/dyspraxia and macrocephaly. Examination of the proband revealed relative macrocephaly (head circumference 98th centile), mild dystonic posturing and position-specific left upper limb action tremor. (Source: Parkinsonism and Related Disorders)
Source: Parkinsonism and Related Disorders - April 3, 2016 Category: Neurology Authors: Sacha E. Gandhi, Helen R. Murphy, Mark W. Kellett, Rekha Siripurapu, Christopher Kobylecki Tags: Correspondence Source Type: research
Gait dyspraxia as a clinical marker of cognitive decline in Down syndrome: A review of theory and proposed mechanisms.
Abstract
Down syndrome (DS) is the most common genetic cause of intellectual disability in children. With aging, DS is associated with an increased risk for Alzheimer's disease (AD). The development of AD neuropathology in individuals with DS can result in further disturbances in cognition and behavior and may significantly exacerbate caregiver burden. Early detection may allow for appropriate preparation by caregivers. Recent literature suggests that declines in gait may serve as an early marker of AD-related cognitive disorders; however, this relationship has not been examined in individuals with DS. The...
Source: Brain and Cognition - February 27, 2016 Category: Neurology Authors: Anderson-Mooney AJ, Schmitt FA, Head E, Lott IT, Heilman KM Tags: Brain Cogn Source Type: research
A Quantitative Summary of The Listening Program (TLP) Efficacy Studies: What Areas Were Found to Improve by TLP Intervention?
Abstract
A quantitative summary of existing research examining the effects of The Listening Program (TLP) on various functions in children is presented. Nine studies were used, looking at TLP intervention effects across studies, within each study and for various outcome measures. The studies looked at TLP intervention on children with autism spectrum disorder, Down syndrome, learning disabilities, auditory processing disorders, attention deficit hyperactivity disorders, Rhett syndrome, dyspraxia, cerebral palsy, fibromyalgia, arthritis and stroke. The magnitude of the TLP effect size revealed a mean value of 0.41 across al...
Source: Occupational Therapy International - February 17, 2016 Category: Occupational Health Authors: Sadako Vargas, Jay R. Lucker Tags: Research Article Source Type: research
Expanding the phenotypic profile of Kleefstra syndrome: A female with low‐average intelligence and childhood apraxia of speech
Kleefstra syndrome (KS) is a rare neurogenetic disorder most commonly caused by deletion in the 9q34.3 chromosomal region and is associated with intellectual disabilities, severe speech delay, and motor planning deficits. To our knowledge, this is the first patient (PQ, a 6‐year‐old female) with a 9q34.3 deletion who has near normal intelligence, and developmental dyspraxia with childhood apraxia of speech (CAS). At 6, the Wechsler Preschool and Primary Intelligence testing (WPPSI‐III) revealed a Verbal IQ of 81 and Performance IQ of 79. The Beery Buktenica Test of Visual Motor Integration, 5th Edition (VMI) indicate...
Source: American Journal of Medical Genetics Part A - February 1, 2016 Category: Genetics & Stem Cells Authors: Carole Samango‐Sprouse, Patrick Lawson, Courtney Sprouse, Emily Stapleton, Teresa Sadeghin, Andrea Gropman Tags: Clinical Report Source Type: research
[Minimal cerebral dysfunctions and ADHD in adulthood].
Abstract
Attention deficit hyperactivity disorder (ADHD) is of great importance not only in children but also in adults; however, despite extensive research there are still many unsolved questions with respect to the diagnosis. Patients not only suffer from attention deficits and hyperactivity but also a variety of other problems, such as dyspraxia, problems with stimulus discrimination, dysgrammatism, legasthenia, or motor coordination problems. Furthermore, there are also psychopathological disorders, such as problems with memory, formal thinking, emotional modulation, drive and vegetative stability, in ...
Source: Der Nervenarzt - January 28, 2016 Category: Neurology Authors: Linden M, Weddigen J Tags: Nervenarzt Source Type: research
