Stereotypic Hand Movements in β‐Propeller Protein‐Associated Neurodegeneration: First Video Report

Uchino, Shumpei; Saitsu, Hirotomo; Kumada, Satoko; Nakata, Yasuhiro; Matsumoto, Naomichi

doi:10.1002/mdc3.12158

Cited by 9 publications

(6 citation statements)

References 7 publications

(14 reference statements)

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“…Patients with BPAN displays iron deposition in the globus pallidus and substantia nigra on brain MRI [30,[32][33][34] (Fig. 2).…”

Section: Beta-propeller Protein-associated Neurodegenerationmentioning

confidence: 99%

“…In contrast to normal individuals, the putaminal pencil lining was observed early during the first decade of life in BPAN patients [20]. A hyperintense halo has also been reported around the substantia nigra using T1-weighted images [30,32,35,36] but this sign seems inconstant [33]. Brain and hippocampal atrophy as well as cortical thinning have been reported in patients with epileptic encephalopathies [34,[36][37][38].…”

Section: Beta-propeller Protein-associated Neurodegenerationmentioning

confidence: 99%

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MRI of neurodegeneration with brain iron accumulation

Lehericy

Roze

Goizet

et al. 2020

Current Opinion in Neurology

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Purpose of review The diagnosis of neurodegeneration with brain iron accumulation (NBIA) typically associates various extrapyramidal and pyramidal features, cognitive and psychiatric symptoms with bilateral hypointensities in the globus pallidus on iron-sensitive magnetic resonance images, reflecting the alteration of iron homeostasis in this area. This article details the contribution of MRI in the diagnosis by summarizing and comparing MRI patterns of the various NBIA subtypes. Recent findings MRI almost always shows characteristic changes combining iron accumulation and additional neuroimaging abnormalities. Iron-sensitive MRI shows iron deposition in the basal ganglia, particularly in bilateral globus pallidus and substantia nigra. Other regions may be affected depending on the NBIA subtypes including the cerebellum and dentate nucleus, the midbrain, the striatum, the thalamus, and the cortex. Atrophy of the cerebellum, brainstem, corpus callosum and cortex, and white matter changes may be associated and worsen with disease duration. Iron deposition can be quantified using R2 Ã or quantitative susceptibility mapping. Summary Recent MRI advances allow depicting differences between the various subtypes of NBIA, providing a useful analytical framework for clinicians. Standardization of protocols for image acquisition and analysis may help improving the detection of imaging changes associated with NBIA and the quantification of iron deposition. Keywords dystonia, iron, MRI, neurodegeneration with brain iron accumulation, pyramidal, quantitative susceptibility mapping, R2 Ã mapping, susceptibility-weighted imaging && ,2 && ]. By the time, neurologic features are obvious, brain MRI almost always shows characteristic changes, although these changes may occasionally appear only later over the disease course. Conversely,

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“…Patients with BPAN displays iron deposition in the globus pallidus and substantia nigra on brain MRI [30,[32][33][34] (Fig. 2).…”

Section: Beta-propeller Protein-associated Neurodegenerationmentioning

confidence: 99%

Section: Beta-propeller Protein-associated Neurodegenerationmentioning

confidence: 99%

MRI of neurodegeneration with brain iron accumulation

Lehericy

Roze

Goizet

et al. 2020

Current Opinion in Neurology

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“…74,75 The hallmark feature of BPAN, "a halo sign," is usually present later and refers to the hypointensity in the SN and cerebral peduncles seen as a thin, dark central band surrounded by a hyperintense halo on T1WI. 72,76,77 Case series have also demonstrated mildly hyperintense T1WI signal within the GP and scattered white matter T2WI hyperintensities. 71,72,76,78 A rarely seen combination of the SN T2*WI hypointensity (corresponding to enlarged SN) and bilateral, symmetric dentate nuclei (DN) hyperintensity on T2WI should also raise the diagnostic suspicion for BPAN.…”

Section: Imagingmentioning

confidence: 98%

“…The hallmark feature of BPAN, “a halo sign,” is usually present later and refers to the hypointensity in the SN and cerebral peduncles seen as a thin, dark central band surrounded by a hyperintense halo on T1WI 72,76,77 …”

Section: Disorders With the X‐linked Inheritancementioning

confidence: 99%

Neuroimaging Pearls from theMDSCongress Video Challenge. Part 1: Genetic Disorders

Olszewska

Rawal

Fearon

et al. 2022

Movement Disord Clin Pract

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We selected several “imaging pearls” presented during the Movement Disorder Society (MDS) Video Challenge for this review. While the event, as implicated by its name, was video‐centered, we would like to emphasize the important role of imaging in making the correct diagnosis. We divided this anthology into two parts: genetic and acquired disorders. Genetic cases described herein were organized by the inheritance pattern and the focus was put on the imaging findings and differential diagnoses. Despite the overlapping phenotypes, certain described disorders have pathognomonic MRI brain findings that would provide either the “spot” diagnosis or result in further investigations leading to the diagnosis. Despite this, the diagnosis is often challenging with a broad differential diagnosis, and hallmark findings may be present for only a limited time.

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“…Rett syndrome is the classic example of a genetic disorder with almost universal hand stereotypies and a clear midline hand-washing stereotypies signature (Brunetti & Lumsden, 2020; Temudo et al, 2007), which is one of the major clinical criteria for Rett syndrome diagnosis (Stallworth et al, 2019; Temudo et al, 2007; Temudo et al, 2008). Other disorders include beta-propeller protein-associated neurodegeneration, with midline hand stereotypies (Dykens & Smith, 1998; Laje et al, 2010; Uchino et al, 2015), Smith-Magenis syndrome, with self-hugging stereotypies (Laje et al, 2010), and STXBP-1 epileptic encephalopathy, with the “figure-of-eight” head stereotypy (Deprez et al, 2010; Kim et al, 2013). Studies in animal models point to genes that may be associated with stereotypies (Keller et al, 2021; Lewis et al, 2007); however, the specific genes and genetic variants contributing to stereotypies remain unclear.…”

Section: Introductionmentioning

confidence: 99%

Motor stereotypies in autism spectrum disorder: Clinical randomized study and classification proposal

Melo

Ribeiro

Prior

et al. 2022

Autism

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Motor stereotypies are frequently reported in individuals with autism spectrum disorder, but determinants of stereotypies remain poorly understood. In this study, a randomized sample of children with diagnosis of autism spectrum disorder was investigated to identify the prevalence and determinants of stereotypies. A total of 134 children who carried the diagnosis of autism spectrum disorder were included (aged 2.3–17.6 years; 79.1% male). Stereotypies were classified during a standardized protocol with video recording. The prevalence of stereotypies was 56.7%. Among 1198 captured stereotypies, hand/arm stereotypies were the most frequent. Thirty-five morphology patterns were identified, the most frequent being hand flapping, tapping, and jumping. In univariate analysis, an association was found between stereotypies and younger age (odds ratio = 0.74), developmental delay, or intellectual disability (odds ratio = 5.25), being nonverbal (odds ratio = 0.06), epilepsy (odds ratio = 3.89), Autism Diagnostic Interview–Revised-A score (odds ratio = 1.17), Autism Diagnostic Interview–Revised-C score (odds ratio = 1.25), and Autism Diagnostic Observation Schedule–2 score (odds ratio = 1.65). After multivariate analysis, only younger age, being nonverbal, and Autism Diagnostic Interview–Revised-A and Autism Diagnostic Observation Schedule–2 scores remained as determinants of stereotypies. The prevalence of stereotypies in autism spectrum disorder was close to the values obtained in a previous meta-analysis and seems to represent a valid value. The combination of younger age, being nonverbal, and autism severity seems to increase the odds of stereotypies. Lay abstract Motor stereotypies are one of the most frequent features in children with a diagnosis of autism spectrum disorder. They may disrupt children’s functioning and development and be a potential source of stress for families. Several factors, including sex, age, cognitive ability, and severity of autism spectrum disorder, may influence the presence and intensity of stereotypies. The present study aimed to identify the prevalence of motor stereotypies in a group of children with autism spectrum disorder. In addition, it sought to investigate whether sex, age, cognitive ability, verbal language, neurological comorbidities, and severity of autism spectrum disorder were associated with an increased probability and higher number, duration, and variability of stereotypies. A total of 134 participants aged 2.3–17.6 years underwent a clinical protocol with standardized video-recorded sessions. Stereotypies were identified and classified by two independent evaluators. The prevalence of stereotypies was 56.7%, and a total of 1198 motor stereotypies were captured. Children who were younger, nonverbal, and had higher severity of autism spectrum disorder had an increased probability of presenting stereotypies. Being nonverbal or having higher severity of autism spectrum disorder was also associated with presenting a higher number of stereotypies. Children with developmental delay, intellectual disability, or epilepsy displayed longer stereotypies, and children with developmental delay or intellectual disability additionally presented more diverse stereotypies. As part of the study, the authors present a clinical classification model, a glossary, and video samples of motor stereotypies. The findings of this study suggest that children who are younger, nonverbal, have lower cognitive ability, and have higher severity of autism spectrum disorder may have a higher burden of stereotypies. Earlier intervention and monitoring of these children have the potential to improve their long-term outcomes.

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Stereotypic Hand Movements in β‐Propeller Protein‐Associated Neurodegeneration: First Video Report

Cited by 9 publications

References 7 publications

MRI of neurodegeneration with brain iron accumulation

MRI of neurodegeneration with brain iron accumulation

Neuroimaging Pearls from theMDSCongress Video Challenge. Part 1: Genetic Disorders

Motor stereotypies in autism spectrum disorder: Clinical randomized study and classification proposal

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