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Parviz, Mahsa

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Parviz

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Mahsa

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Parviz, Mahsa
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    Neural Mechanisms Underlying Musical Pitch Perception and Clinical Applications Including Developmental Dyslexia
    (2017-10-03) Yuskaitis, Christopher J.; Parviz, Mahsa; Loui, Psyche; Wan, Catherine Y.; Pearl, Phillip L.
    Music production and perception invoke a complex set of cognitive functions that rely on the integration of sensorimotor, cognitive, and emotional pathways. Pitch is a fundamental perceptual attribute of sound and a building block for both music and speech. Although the cerebral processing of pitch is not completely understood, recent advances in imaging and electrophysiology have provided insight into the functional and anatomical pathways of pitch processing. This review examines the current understanding of pitch processing and behavioral and neural variations that give rise to difficulties in pitch processing, and potential applications of music education for language processing disorders such as dyslexia.
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    Inherited disorders of gamma-aminobutyric acid metabolism and advances inALDH5A1mutation identification
    (Wiley-Blackwell, 2014) Pearl, Phillip; Parviz, Mahsa; Vogel, Kara; Schreiber, John; Theodore, William H; Gibson, K Michael
    Background and Objectives Inherited disorders of GABA metabolism include SSADH and GABA-transaminase deficiencies. The clinical features, pathophysiology, diagnosis, and management of both are discussed, including an updated list of ALDH5A1 mutations causing SSADH deficiency. Methods Our SSADH patient database was analyzed and murine and translational studies leading to clinical trials are reviewed. Results The database containing 112 SSADH-deficient patients (71 pediatric and adolescent subjects, 41 adults) indicates that developmental delay and hypotonia are the most common presenting symptoms. Epilepsy is present in 2/3 of patients by adulthood. Murine genetic model, and human studies using flumazenil-PET and transcranial magnetic stimulation, have led to therapeutic trials and identified additional metabolic disruptions. Suggestions for new therapies have arisen from findings of GABAergic effects on autophagy with enhanced activation of the mTor pathway. A total of 45 pathogenic mutations have been reported in SSADH deficiency including the discovery of three previously unreported. Conclusions Investigations into the disorders of GABA metabolism provide fundamental insights into mechanisms underlying epilepsy and support the development of biomarkers and clinical trials. Comprehensive definition of the phenotypes of both SSADH and GABA-T deficiencies may increase our knowledge of the neurophysiological consequences of a hyperGABAergic state.
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    Disorders of GABA metabolism: SSADH and GABA-transaminase deficiencies
    (IOS Press, 2015) Parviz, Mahsa
    Clinical disorders known to affect inherited gamma-amino butyric acid (GABA) metabolism are autosomal recessively inherited succinic semialdehyde dehydrogenase and GABA-transaminase deficiency. The clinical presentation of succinic semialdehyde dehydrogenase deficiency includes intellectual disability, ataxia, obsessive-compulsive disorder and epilepsy with a nonprogressive course in typical cases, although a progressive form in early childhood as well as deterioration in adulthood with worsening epilepsy are reported. GABA-transaminase deficiency is associated with a severe neonatal-infantile epileptic encephalopathy.