Monique C. King

Clinical and biochemical characterization of amyotrophic lateral sclerosis in a CHCHD10 R15L family

Justin Y. Kwan, Christian Lantz, Vlad A. Korben, Allison Snyder et autres

Familial forms of ALS are potential candidates for gene-directed therapies, but many recently identified genes remain poorly characterized. Here, we provide a comprehensive clinical, neuropathological, and biochemical description of fALS caused by the heterozygous p.R15L missense mutation in the gene CHCHD10. Using …

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Adult diagnosis of congenital serine biosynthesis defect: A treatable cause of progressive neuropathy

Sarah Debs, Carlos R. Ferreira, Catherine A. Groden, H Jeffrey Kim et autres

A woman with ichthyosis, contractures, and progressive neuropathy represents the first case of phosphoserine aminotransferase deficiency diagnosed and treated in an adult. She has novel compound heterozygous mutations in the gene PSAT1. Treatment with high dose oral L-serine completely resolved the ichthyosis. …

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Association of Miglustat With Swallowing Outcomes in Niemann-Pick Disease, Type C1

Beth I. Solomon, Andrew C. Smith, Ninet Sinaii, Nicole Yanjanin Farhat et autres

Importance: Niemann-Pick disease, type C1 (NPC1) is a progressive neurovisceral disease with no US Food and Drug Administration-approved therapy. Miglustat, a drug used off-label in the United States for the treatment of NPC1, appears to stabilize neurologic disease progression. Several prospective trials …

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Verb and noun deficits in stroke-induced and primary progressive aphasia: The Northwestern Naming Battery

Cynthia K. Thompson, Sladjana Lukic, Monique C. King, M.‐Marsel Mesulam et autres

BACKGROUND: Word class naming deficits are commonly seen in aphasia resulting from stroke (StrAph) and primary progressive aphasia (PPA), with differential production of nouns (objects) and verbs (actions) found based on StrAph type or PPA variant for some individuals. Studies to date, …

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Noun and Verb Production and Comprehension in Stroke-Induced and Primary Progressive Aphasia: An Introduction to the Northwestern Naming Battery

Monique C. King, Sladjana Lukic, Sandra Weıntraub, Cynthia K. Thompson

This study examined production and comprehension of nouns and verbs using the Northwestern Naming Battery (NNB), a new test designed to assess naming ability in individuals with stroke-induced or primary progressive aphasia (PPA). Scores derived from the NNB were also compared to …