Laura Tochen

The Relationship Between Limb Dystonia Severity and Functional Impact in Children With Cerebral Palsy

Emma Lott, Susie Kim, Joanna Blackburn, Rose Gelineau‐Morel et autres

Abstract Dystonia treatment evaluation in cerebral palsy (CP) is limited by the lack of clinician-assessed scales linking dystonia severity to functional impact. We asked 7 pediatric movement disorder specialists to review videos of 27 children with CP while performing an upper extremity …

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Using Expert‐Cited Features to Detect Leg Dystonia in Cerebral Palsy

R. Bajpai, Alyssa Rust, Emma Lott, Susie Kim et autres

OBJECTIVES: Leg dystonia in cerebral palsy (CP) is debilitating but remains underdiagnosed. Routine clinical evaluation has only 12% accuracy for leg dystonia diagnosis compared to gold-standard expert consensus assessment. We determined whether expert-cited leg dystonia features could be quantified to train machine …

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P160: Phenotypic expansion and natural history of leukoencephalopathy with brain calcifications and cysts

Jamie Fraser, Jennifer Harmon, Brianna Pierce, Jason Schroeder et autres

Leukoencephalopathy with brain calcifications and cysts (LCC, previously Labrune Syndrome, OMIM 614561) is caused by biallelic pathogenic variants in SNORD118 which encodes the small nucleolar RNA U8 and is required for biogenesis of the 60S ribosome. LCC is characterized by progressive white …

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P102: Genetic etiology of PRRT2-negative paroxysmal kinesigenic dyskinesia (PKD)*

Cecilia Bouska, Laura Tochen, Kuntal Sen, Alonso Zea Vera

Paroxysmal kinesigenic dyskinesia (PKD) is a neurological disorder characterized by brief episodes of involuntary movements (dystonia or chorea) with preserved consciousness, typically precipitated by sudden voluntary movement or the intention to move. The most common cause of PKD is heterozygous loss-of-function variants …

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Molecular and clinical spectrum of epilepsy-dyskinesia syndromes: a cross-sectional study of 609 patients

Vicente Quiroz, Julian E. Alecu, Umar Zubair, Katerina Bernardi et autres

Epilepsy-dyskinesia syndromes (EDS) are a complex group of neurogenetic disorders characterized by the co-occurrence of epilepsy and movement disorders. Despite their increasing clinical recognition, the molecular and clinical spectrum of EDS remains poorly understood. While numerous genetic aetiologies have been implicated, systematic …

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Chronic Striatal Cholinergic Interneuron Excitation Causes Cerebral Palsy‐Related Dystonic Behavior in Mice

Kat Gemperli, Xinguo Lu, Keerthana Chintalapati, Alyssa Rust et autres

OBJECTIVE: Mouse models of genetic dystonias have demonstrated abnormal striatal cholinergic interneuron excitability, but do not consistently demonstrate subjective dystonic features. To determine whether striatal cholinergic interneuron excitation can cause potentially dystonic motor behaviors, we first determined features correlated specifically with dystonia …

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Evaluation, Diagnosis, and Treatment of Concomitant Movement Disorders in Genetic Epilepsies

Jordan Garris, Megan Abbott, Erika Axeen, Laura Tochen et autres

Genetic epilepsies and developmental and epileptic encephalopathies are commonly associated with concomitant movement disorders, which can mimic seizures and/or create additional disability. Appropriate diagnosis is critical to proper management. A broad range of movement disorder phenomenologies occur among patients with genetic epilepsy, …

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Contributors

Gregory Aaen, Nicholas S. Abend, Laura Ann Adang, Amina Ahmed et autres

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Tics and Tourette Syndrome

Laura Tochen, Harvey S. Singer

DxTonia: Using expert-cited features to detect leg dystonia in cerebral palsy

Rishabh Bajpai, Alyssa Rust, Emma Lott, Susie Kim et autres

Objectives: Leg dystonia in cerebral palsy (CP) is debilitating but remains underdiagnosed. Routine clinical evaluation has only 12% accuracy for leg dystonia diagnosis compared to gold-standard expert consensus assessment. We determined whether expert-cited leg dystonia features could be quantified to train machine …

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Biallelic Variants in COQ4 Cause Childhood‐Onset Pure Hereditary Spastic Paraplegia

Luca Schierbaum, Vicente Quiroz, Amy Tam, Umar Zubair et autres

The data that support the findings of this study are available from the corresponding author upon reasonable request.

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Movement disorders in leukodystrophies

Laura Tochen, Jullie Rhee, Jennifer Harmon, Jamie L. Fraser

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