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Article: Isoform-specific loss of dystonin causes hereditary motor and sensory neuropathy.

Motley, William W / Züchner, Stephan / Scherer, Steven S

2020 Volume 6, Issue 5, Page(s) e496

Abstract: Objective: To determine the genetic cause of axonal Charcot-Marie-Tooth disease in a small family with 2 affected siblings, one of whom had cerebellar features on examination.: Methods: Whole-exome sequencing of genomic DNA and analysis for ... ...

Abstract	Objective: To determine the genetic cause of axonal Charcot-Marie-Tooth disease in a small family with 2 affected siblings, one of whom had cerebellar features on examination. Methods: Whole-exome sequencing of genomic DNA and analysis for recessively inherited mutations; PCR-based messenger RNA/complementary DNA analysis of transcripts to characterize the effects of variants identified by exome sequencing. Results: We identified compound heterozygous mutations in dystonin ( Conclusions: These findings introduce a novel human phenotype, axonal Charcot-Marie-Tooth, of recessive
Language	English
Publishing date	2020-07-31
Publishing country	United States
Document type	Journal Article
ZDB-ID	2818607-2
ISSN	2376-7839
ISSN	2376-7839
DOI	10.1212/NXG.0000000000000496
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Article ; Online: Perceived Racism-based police use of force and cannabis use among Black emerging adults.

Motley, Robert O / Byansi, William / Siddiqi, Rebekah / Bills, Kaycee L / Salas-Wright, Christopher P

Addictive behaviors reports

2022 Volume 15, Page(s) 100430

Abstract: Background: Racial discrimination and cannabis use among Black emerging adults in America is a growing public health concern. However, research examining the relationship between exposure to perceived racism-based police use-of-force and cannabis use ... ...

Abstract	Background: Racial discrimination and cannabis use among Black emerging adults in America is a growing public health concern. However, research examining the relationship between exposure to perceived racism-based police use-of-force and cannabis use for this population is scant. This study examined the frequency of exposure (direct and indirect) to racism-based police use-of-force and its relationship with past 30-day cannabis use for a sample of Black emerging adult men and women 18-29 years of age. Methods: Black emerging adults (N = 300; 49% males, 51% females) in St. Louis, Missouri completed computer assisted surveys on frequency of exposure to perceived racism-based police use-of-force and cannabis use. Multivariate logistic regression analysis was used to examine the association between frequency of exposure to perceived racism-based police use-of-force and cannabis use, controlling for covariates (sociodemographic, police contacts, and community violence). Results: Our findings revealed that females reported significantly higher rates of indirect exposure to perceived racism-based police use-of-force than males. Relative to Black females, indirect exposure to perceived racism-based police use-of-force increased the odds of cannabis use among Black males. Conclusions: Study findings advance our understanding of the prevalence of exposure to perceived racism-based police use-of-force and its influence on cannabis use for Black emerging adults, specifically males. Results highlight the need for future research, behavioral health interventions, and policy targeting the interplay between indirect exposure to perceived racism-based police use-of-force and cannabis use.
Language	English
Publishing date	2022-04-19
Publishing country	Netherlands
Document type	Journal Article
ZDB-ID	2831558-3
ISSN	2352-8532 ; 2352-8532
ISSN (online)	2352-8532
ISSN	2352-8532
DOI	10.1016/j.abrep.2022.100430
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Article ; Online: Expansion of the ophthalmic phenotype of SPINT2-related syndromic congenital sodium diarrhea.

Ernst, Julia / Hiasat, Jamila / Alabek, Michelle L / Scanga, Hannah L / Motley, William / Nischal, Ken K

American journal of medical genetics. Part A

2021 Volume 185, Issue 4, Page(s) 1270–1274

Abstract: A 5-year-old girl presented with treatment-refractory dry eye and recurrent episodes of eye pain. She had been previously diagnosed with syndromic congenital sodium diarrhea (SCSD) caused by a pathogenic variant in SPINT2. Her local pediatric ... ...

Abstract	A 5-year-old girl presented with treatment-refractory dry eye and recurrent episodes of eye pain. She had been previously diagnosed with syndromic congenital sodium diarrhea (SCSD) caused by a pathogenic variant in SPINT2. Her local pediatric ophthalmologist had made the diagnosis of severe dry eye with corneal erosions, based on which, we arranged an eye exam under anesthesia (EUA) and punctal plug placement. Anterior segment optical coherence tomography (OCT) and corneal photographs were taken during the procedure. There are reports describing similar ophthalmic findings in this syndrome. However, to the best of our knowledge, this is the first case report to document OCT imaging and corneal photographs in a patient with SCSD, which we feel expands the ophthalmic phenotype of this rare genetic disorder.
MeSH term(s)	Abnormalities, Multiple/diagnosis ; Abnormalities, Multiple/diagnostic imaging ; Abnormalities, Multiple/genetics ; Abnormalities, Multiple/pathology ; Child, Preschool ; Cornea/metabolism ; Cornea/pathology ; Diarrhea/congenital ; Diarrhea/diagnosis ; Diarrhea/diagnostic imaging ; Diarrhea/genetics ; Diarrhea/pathology ; Humans ; Membrane Glycoproteins/genetics ; Metabolism, Inborn Errors/diagnosis ; Metabolism, Inborn Errors/diagnostic imaging ; Metabolism, Inborn Errors/genetics ; Metabolism, Inborn Errors/pathology ; Mutation/genetics ; Phenotype ; Sodium/metabolism ; Tomography, Optical Coherence/methods
Chemical Substances	Membrane Glycoproteins ; SPINT2 protein, human ; Sodium (9NEZ333N27)
Language	English
Publishing date	2021-02-05
Publishing country	United States
Document type	Case Reports
ZDB-ID	2108614-X
ISSN	1552-4833 ; 0148-7299 ; 1552-4825
ISSN (online)	1552-4833
ISSN	0148-7299 ; 1552-4825
DOI	10.1002/ajmg.a.62094
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Article: Surgical, medical and developmental outcomes in patients with Down syndrome and cataracts.

Santoro, Stephanie L / Atoum, Dema / Hufnagel, Robert B / Motley, William W

SAGE open medicine

2017 Volume 5, Page(s) 2050312117715583

Abstract: Background: Individuals with Down syndrome have an increased risk for congenital cataracts, but descriptions of surgical, medical and developmental outcomes are sparse.: Materials and methods: Retrospective review of medical charts of patients with ... ...

Abstract	Background: Individuals with Down syndrome have an increased risk for congenital cataracts, but descriptions of surgical, medical and developmental outcomes are sparse. Materials and methods: Retrospective review of medical charts of patients with Down syndrome with visits to Cincinnati Children's Hospital from 1988 to 2013 was performed. A case series of five patients with Down syndrome and cataracts is presented. A total of 47 patients with Down syndrome without cataracts were used as a developmental control. Developmental quotients were compared using an independent-sample, unequal variance t-test. Results: Post-operative cataract complication rates ranged from 20% to 60%. Visual outcomes were varied; significant associations between complication rate and visual outcome were not found. Developmental quotients did not show an association with number of complications, but were lower for children with Down syndrome with cataracts requiring surgery compared to children with Down syndrome without cataracts. Conclusion: In children with Down syndrome and congenital cataract, surgical intervention has risk for post-operative complications. Further investigation is needed to determine if there is an association between surgical complications and visual or developmental outcomes.
Language	English
Publishing date	2017-06-19
Publishing country	England
Document type	Journal Article
ZDB-ID	2735399-0
ISSN	2050-3121
ISSN	2050-3121
DOI	10.1177/2050312117715583
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Article ; Online: A mutation in the heptad repeat 2 domain of MFN2 in a large CMT2A family.

Dankwa, Lois / Richardson, Jessica / Motley, William W / Züchner, Stephan / Scherer, Steven S

Journal of the peripheral nervous system : JPNS

2018 Volume 23, Issue 1, Page(s) 36–39

Abstract: Dominant mutations in MFN2 cause a range of phenotypes, including severe, early-onset axonal neuropathy, "classical CMT2," and late-onset axonal neuropathies. We report a large family with an axonal polyneuropathy, with clinical onset in the 20s, ... ...

Abstract	Dominant mutations in MFN2 cause a range of phenotypes, including severe, early-onset axonal neuropathy, "classical CMT2," and late-onset axonal neuropathies. We report a large family with an axonal polyneuropathy, with clinical onset in the 20s, followed by slow progression.
MeSH term(s)	Adult ; Charcot-Marie-Tooth Disease/genetics ; Female ; GTP Phosphohydrolases/genetics ; Humans ; Male ; Middle Aged ; Mitochondrial Proteins/genetics ; Mutation, Missense ; Pedigree
Chemical Substances	Mitochondrial Proteins ; GTP Phosphohydrolases (EC 3.6.1.-) ; MFN2 protein, human (EC 3.6.1.-)
Language	English
Publishing date	2018-02-06
Publishing country	United States
Document type	Journal Article ; Research Support, N.I.H., Extramural ; Research Support, Non-U.S. Gov't
ZDB-ID	1364009-4
ISSN	1529-8027 ; 1085-9489
ISSN (online)	1529-8027
ISSN	1085-9489
DOI	10.1111/jns.12248
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Article ; Online: Inducible knockout of Clec16a in mice results in sensory neurodegeneration.

Hain, Heather S / Pandey, Rahul / Bakay, Marina / Strenkowski, Bryan P / Harrington, Danielle / Romer, Micah / Motley, William W / Li, Jian / Lancaster, Eunjoo / Roth, Lindsay / Grinspan, Judith B / Scherer, Steven S / Hakonarson, Hakon

Scientific reports

2021 Volume 11, Issue 1, Page(s) 9319

Abstract: CLEC16A has been shown to play a role in autophagy/mitophagy processes. Additionally, genetic variants in CLEC16A have been implicated in multiple autoimmune diseases. We generated an inducible whole-body knockout, ... ...

Abstract	CLEC16A has been shown to play a role in autophagy/mitophagy processes. Additionally, genetic variants in CLEC16A have been implicated in multiple autoimmune diseases. We generated an inducible whole-body knockout, Clec16a
MeSH term(s)	Animals ; Cytokines/metabolism ; Female ; Gene Knockout Techniques ; Lectins, C-Type/physiology ; Male ; Mice, Knockout ; Monosaccharide Transport Proteins/physiology ; Nervous System Autoimmune Disease, Experimental ; Neurons/ultrastructure ; Spinocerebellar Ataxias ; Ubiquitins/metabolism ; Mice
Chemical Substances	CLEC16A protein, mouse ; Cytokines ; G1p2 protein, mouse ; Lectins, C-Type ; Monosaccharide Transport Proteins ; Ubiquitins
Language	English
Publishing date	2021-04-29
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	2615211-3
ISSN	2045-2322 ; 2045-2322
ISSN (online)	2045-2322
ISSN	2045-2322
DOI	10.1038/s41598-021-88895-0
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Article ; Online: A novel MFN2 mutation causes variable clinical severity in a multi-generational CMT2 family.

Dankwa, Lois / Richardson, Jessica / Motley, William W / Scavina, Mena / Courel, Steve / Bardakjian, Tanya / Züchner, Stephan / Scherer, Steven S

Neuromuscular disorders : NMD

2018 Volume 29, Issue 2, Page(s) 134–137

Abstract: Dominant mutations in MFN2 cause a range of phenotypes, including severe, early-onset axonal neuropathy, "classical CMT2", and late-onset axonal neuropathy. We found a novel MFN2 mutation - c.283A>G (p.Arg95Gly) - that results in an axonal neuropathy ... ...

Abstract	Dominant mutations in MFN2 cause a range of phenotypes, including severe, early-onset axonal neuropathy, "classical CMT2", and late-onset axonal neuropathy. We found a novel MFN2 mutation - c.283A>G (p.Arg95Gly) - that results in an axonal neuropathy with variable clinical severity in a multigenerational family. In affected family members, electromyography showed moderate to severe, chronic denervation in distal muscles. Such variable clinical severity highlights the need to do careful assessments of at risk individuals when assessing MFN2 variants.
MeSH term(s)	Adult ; Aged, 80 and over ; Charcot-Marie-Tooth Disease/diagnosis ; Charcot-Marie-Tooth Disease/genetics ; Female ; GTP Phosphohydrolases/genetics ; Genotype ; Humans ; Male ; Middle Aged ; Mitochondrial Proteins/genetics ; Mutation ; Pedigree ; Phenotype ; Severity of Illness Index ; Young Adult
Chemical Substances	Mitochondrial Proteins ; GTP Phosphohydrolases (EC 3.6.1.-) ; MFN2 protein, human (EC 3.6.1.-)
Language	English
Publishing date	2018-12-21
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Extramural
ZDB-ID	1077681-3
ISSN	1873-2364 ; 0960-8966
ISSN (online)	1873-2364
ISSN	0960-8966
DOI	10.1016/j.nmd.2018.12.008
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Article ; Online: Inducible knockout of Clec16a in mice results in sensory neurodegeneration

Heather S. Hain / Rahul Pandey / Marina Bakay / Bryan P. Strenkowski / Danielle Harrington / Micah Romer / William W. Motley / Jian Li / Eunjoo Lancaster / Lindsay Roth / Judith B. Grinspan / Steven S. Scherer / Hakon Hakonarson

Scientific Reports, Vol 11, Iss 1, Pp 1-

2021 Volume 14

Abstract: Abstract CLEC16A has been shown to play a role in autophagy/mitophagy processes. Additionally, genetic variants in CLEC16A have been implicated in multiple autoimmune diseases. We generated an inducible whole-body knockout, Clec16a ΔUBC mice, to ... ...

Abstract	Abstract CLEC16A has been shown to play a role in autophagy/mitophagy processes. Additionally, genetic variants in CLEC16A have been implicated in multiple autoimmune diseases. We generated an inducible whole-body knockout, Clec16a ΔUBC mice, to investigate the loss of function of CLEC16A. The mice exhibited a neuronal phenotype including tremors and impaired gait that rapidly progressed to dystonic postures. Nerve conduction studies and pathological analysis revealed loss of sensory axons that are associated with this phenotype. Activated microglia and astrocytes were found in regions of the CNS. Several mitochondrial-related proteins were up- or down-regulated. Upregulation of interferon stimulated gene 15 (IGS15) were observed in neuronal tissues. CLEC16A expression inversely related to IGS15 expression. ISG15 may be the link between CLEC16A and downstream autoimmune, inflammatory processes. Our results demonstrate that a whole-body, inducible knockout of Clec16a in mice results in an inflammatory neurodegenerative phenotype resembling spinocerebellar ataxia.
Keywords	Medicine ; R ; Science ; Q
Subject code	570
Language	English
Publishing date	2021-04-01T00:00:00Z
Publisher	Nature Portfolio
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: Surgical, medical and developmental outcomes in patients with Down syndrome and cataracts

Stephanie L Santoro / Dema Atoum / Robert B Hufnagel / William W Motley

SAGE Open Medicine, Vol

2017 Volume 5

Abstract: Background: Individuals with Down syndrome have an increased risk for congenital cataracts, but descriptions of surgical, medical and developmental outcomes are sparse. Materials and Methods: Retrospective review of medical charts of patients with Down ... ...

Abstract	Background: Individuals with Down syndrome have an increased risk for congenital cataracts, but descriptions of surgical, medical and developmental outcomes are sparse. Materials and Methods: Retrospective review of medical charts of patients with Down syndrome with visits to Cincinnati Children’s Hospital from 1988 to 2013 was performed. A case series of five patients with Down syndrome and cataracts is presented. A total of 47 patients with Down syndrome without cataracts were used as a developmental control. Developmental quotients were compared using an independent-sample, unequal variance t-test. Results: Post-operative cataract complication rates ranged from 20% to 60%. Visual outcomes were varied; significant associations between complication rate and visual outcome were not found. Developmental quotients did not show an association with number of complications, but were lower for children with Down syndrome with cataracts requiring surgery compared to children with Down syndrome without cataracts. Conclusion: In children with Down syndrome and congenital cataract, surgical intervention has risk for post-operative complications. Further investigation is needed to determine if there is an association between surgical complications and visual or developmental outcomes.
Keywords	Medicine (General) ; R5-920
Subject code	610
Language	English
Publishing date	2017-06-01T00:00:00Z
Publisher	SAGE Publishing
Document type	Article ; Online
Database	BASE - Bielefeld Academic Search Engine (life sciences selection)

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Article ; Online: GARS axonopathy: not every neuron's cup of tRNA.

Motley, William W / Talbot, Kevin / Fischbeck, Kenneth H

Trends in neurosciences

2010 Volume 33, Issue 2, Page(s) 59–66

Abstract: Charcot-Marie-Tooth disease type 2D, a hereditary axonal neuropathy, is caused by mutations in glycyl-tRNA synthetase (GARS). The mutations are distributed throughout the protein in multiple functional domains. In biochemical and cell culture experiments, ...

Abstract	Charcot-Marie-Tooth disease type 2D, a hereditary axonal neuropathy, is caused by mutations in glycyl-tRNA synthetase (GARS). The mutations are distributed throughout the protein in multiple functional domains. In biochemical and cell culture experiments, some mutant forms of GARS have been indistinguishable from wild-type protein, suggesting that these in vitro tests might not adequately assess the aberrant activity responsible for axonal degeneration. Recently, mouse and fly models have offered new insights into the disease mechanism. There are still gaps in our understanding of how mutations in a ubiquitously expressed component of the translation machinery result in axonal neuropathy. Here, we review recent reports, weigh the evidence for and against possible mechanisms and suggest areas of focus for future work.
MeSH term(s)	Animals ; Disease Models, Animal ; Glycine-tRNA Ligase/deficiency ; Glycine-tRNA Ligase/genetics ; Hereditary Sensory and Motor Neuropathy/epidemiology ; Hereditary Sensory and Motor Neuropathy/genetics ; Hereditary Sensory and Motor Neuropathy/physiopathology ; Humans ; Mitochondrial Diseases/genetics ; Mutation/genetics
Chemical Substances	Glycine-tRNA Ligase (EC 6.1.1.14)
Language	English
Publishing date	2010-02-12
Publishing country	England
Document type	Journal Article ; Research Support, N.I.H., Intramural ; Research Support, Non-U.S. Gov't ; Review
ZDB-ID	282488-7
ISSN	1878-108X ; 0378-5912 ; 0166-2236
ISSN (online)	1878-108X
ISSN	0378-5912 ; 0166-2236
DOI	10.1016/j.tins.2009.11.001
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Zs.MG 53: Show issues

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