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Article ; Online: Rapidly progressive dementias - leukodystrophies as a potentially treatable cause.

Wolf, Nicole I / Pijnenburg, Yolande A L / van der Knaap, Marjo S

2022 Volume 18, Issue 12, Page(s) 758

MeSH term(s)	Humans ; Dementia/etiology ; Neurodegenerative Diseases
Language	English
Publishing date	2022-10-27
Publishing country	England
Document type	Letter ; Comment
ZDB-ID	2491514-2
ISSN	1759-4766 ; 1759-4758
ISSN (online)	1759-4766
ISSN	1759-4758
DOI	10.1038/s41582-022-00740-8
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Article ; Online: Basal nuclei are not involved in early metachromatic leukodystrophy.

Beerepoot, Shanice / Schoenmakers, Daphne H / van der Knaap, Marjo S / Wolf, Nicole I

Clinical neurology and neurosurgery

2023 Volume 228, Page(s) 107696

MeSH term(s)	Humans ; Leukodystrophy, Metachromatic/diagnosis ; Basal Ganglia
Language	English
Publishing date	2023-03-27
Publishing country	Netherlands
Document type	Letter ; Comment
ZDB-ID	193107-6
ISSN	1872-6968 ; 0303-8467
ISSN (online)	1872-6968
ISSN	0303-8467
DOI	10.1016/j.clineuro.2023.107696
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Article ; Online: The effect of intrathecal recombinant arylsulfatase A therapy on structural brain magnetic resonance imaging in children with metachromatic leukodystrophy.

Groeschel, Samuel / Beerepoot, Shanice / Amedick, Lucas Bastian / Krӓgeloh-Mann, Ingeborg / Li, Jing / Whiteman, David A H / Wolf, Nicole I / Port, John D

Journal of inherited metabolic disease

2024

Abstract: This study aimed to evaluate the effect of intrathecal (IT) recombinant human arylsulfatase A (rhASA) on magnetic resonance imaging (MRI)-assessed brain tissue changes in children with metachromatic leukodystrophy (MLD). In total, 510 MRI scans were ... ...

Abstract	This study aimed to evaluate the effect of intrathecal (IT) recombinant human arylsulfatase A (rhASA) on magnetic resonance imaging (MRI)-assessed brain tissue changes in children with metachromatic leukodystrophy (MLD). In total, 510 MRI scans were collected from 12 intravenous (IV) rhASA-treated children with MLD, 24 IT rhASA-treated children with MLD, 32 children with untreated MLD, and 156 normally developing children. Linear mixed models were fitted to analyze the time courses of gray matter (GM) volume and fractional anisotropy (FA) in the posterior limb of the internal capsule. Time courses for demyelination load and FA in the centrum semiovale were visualized using locally estimated scatterplot smoothing regression curves. All assessed imaging parameters demonstrated structural evidence of neurological deterioration in children with MLD. GM volume was significantly lower at follow-up (median duration, 104 weeks) in IV rhASA-treated versus IT rhASA-treated children. GM volume decline over time was steeper in children receiving low-dose (10 or 30 mg) versus high-dose (100 mg) IT rhASA. Similar effects were observed for demyelination. FA in the posterior limb of the internal capsule showed a higher trend over time in IT rhASA-treated versus children with untreated MLD, but FA parameters were not different between children receiving the low doses versus those receiving the high dose. GM volume in IT rhASA-treated children showed a strong positive correlation with 88-item Gross Motor Function Measure score over time. In some children with MLD, IT administration of high-dose rhASA may delay neurological deterioration (assessed using MRI), offering potential therapeutic benefit.
Language	English
Publishing date	2024-02-06
Publishing country	United States
Document type	Journal Article
ZDB-ID	438341-2
ISSN	1573-2665 ; 0141-8955
ISSN (online)	1573-2665
ISSN	0141-8955
DOI	10.1002/jimd.12706
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Article ; Online: Torticollis with Atlantoaxial Rotatory Subluxation in Children: A Clinical Review.

Kempeneers, Marinus A / Buis, Dennis R / Feller, Ricardo E / Roosendaal, Stefan D / Slot, K Mariam / Wolf, Nicole I / Vandertop, W Peter

Neuropediatrics

2024

Abstract: A small proportion of children with a sudden onset torticollis ("wry neck") presents with an atlantoaxial rotatory subluxation, usually after mild trauma or recent head or neck infection. Torticollis is a clinical diagnosis and imaging is usually not ... ...

Abstract	A small proportion of children with a sudden onset torticollis ("wry neck") presents with an atlantoaxial rotatory subluxation, usually after mild trauma or recent head or neck infection. Torticollis is a clinical diagnosis and imaging is usually not indicated, though often performed in clinical practice. Atlantoaxial rotatory subluxation on imaging is often a physiological phenomenon in torticollis, and concomitant neurological symptoms are therefore rare. Treatment is primarily conservative, with analgesics, a rigid neck collar, and if needed benzodiazepines to counteract muscle spasms and anxiety. In case of treatment failure or chronic subluxation, cervical repositioning and fixation under general anesthesia may be considered. Surgical treatment is only indicated in a small percentage of patients with chronic refractory subluxation, concomitant cervical fractures, or congenital anomalies. Early diagnosis and treatment are important, since this is associated with a more successful conservative outcome than a prolonged approach.
Language	English
Publishing date	2024-05-15
Publishing country	Germany
Document type	Journal Article
ZDB-ID	573291-8
ISSN	1439-1899 ; 0174-304X
ISSN (online)	1439-1899
ISSN	0174-304X
DOI	10.1055/a-2312-9994
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Article ; Online: To the Reviewers of Neuropediatrics in 2019.

Plecko, Barbara / Wolf, Nicole I / Neubauer, Bernd A

Neuropediatrics

2020 Volume 51, Issue 4, Page(s) 237–240

Language	English
Publishing date	2020-07-21
Publishing country	Germany
Document type	Editorial
ZDB-ID	573291-8
ISSN	1439-1899 ; 0174-304X
ISSN (online)	1439-1899
ISSN	0174-304X
DOI	10.1055/s-0040-1713930
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Article ; Online: Reader response: Teaching NeuroImages: A rare case of Jacobsen syndrome with global diffuse hypomyelination of brain.

Wolf, Nicole I / van der Knaap, Marjo S

Neurology

2020 Volume 94, Issue 10, Page(s) 458

MeSH term(s)	Brain ; Humans ; Jacobsen Distal 11q Deletion Syndrome
Language	English
Publishing date	2020-03-09
Publishing country	United States
Document type	Journal Article ; Comment
ZDB-ID	207147-2
ISSN	1526-632X ; 0028-3878
ISSN (online)	1526-632X
ISSN	0028-3878
DOI	10.1212/WNL.0000000000009070
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Article ; Online: Cortical interneuron development is affected in 4H leukodystrophy.

Dooves, Stephanie / Kok, Liza M L / Holmes, Dwayne B / Breeuwsma, Nicole / Breur, Marjolein / Bugiani, Marianna / Wolf, Nicole I / Heine, Vivi M

Brain : a journal of neurology

2023 Volume 146, Issue 7, Page(s) 2846–2860

Abstract: 4H leukodystrophy is a rare genetic disorder classically characterized by hypomyelination, hypodontia and hypogonadotropic hypogonadism. With the discovery that 4H is caused by mutations that affect RNA polymerase III, mainly involved in the ... ...

Abstract	4H leukodystrophy is a rare genetic disorder classically characterized by hypomyelination, hypodontia and hypogonadotropic hypogonadism. With the discovery that 4H is caused by mutations that affect RNA polymerase III, mainly involved in the transcription of small non-coding RNAs, patients with atypical presentations with mainly a neuronal phenotype were also identified. Pathomechanisms of 4H brain abnormalities are still unknown and research is hampered by a lack of preclinical models. We aimed to identify cells and pathways that are affected by 4H mutations using induced pluripotent stem cell models. RNA sequencing analysis on induced pluripotent stem cell-derived cerebellar cells revealed several differentially expressed genes between 4H patients and control samples, including reduced ARX expression. As ARX is involved in early brain and interneuron development, we studied and confirmed interneuron changes in primary tissue of 4H patients. Subsequently, we studied interneuron changes in more depth and analysed induced pluripotent stem cell-derived cortical neuron cultures for changes in neuronal morphology, synaptic balance, network activity and myelination. We showed a decreased percentage of GABAergic synapses in 4H, which correlated to increased neuronal network activity. Treatment of cultures with GABA antagonists led to a significant increase in neuronal network activity in control cells but not in 4H cells, also pointing to lack of inhibitory activity in 4H. Myelination and oligodendrocyte maturation in cultures with 4H neurons was normal, and treatment with sonic hedgehog agonist SAG did not improve 4H related neuronal phenotypes. Quantitative PCR analysis revealed increased expression of parvalbumin interneuron marker ERBB4, suggesting that the development rather than generation of interneurons may be affected in 4H. Together, these results indicate that interneurons are involved, possibly parvalbumin interneurons, in disease mechanisms of 4H leukodystrophy.
MeSH term(s)	Hedgehog Proteins/genetics ; Parvalbumins/genetics ; Parvalbumins/metabolism ; Interneurons/metabolism ; Mutation
Chemical Substances	Hedgehog Proteins ; Parvalbumins
Language	English
Publishing date	2023-07-05
Publishing country	England
Document type	Journal Article ; Research Support, Non-U.S. Gov't
ZDB-ID	80072-7
ISSN	1460-2156 ; 0006-8950
ISSN (online)	1460-2156
ISSN	0006-8950
DOI	10.1093/brain/awad017
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Article: Torticollis with Atlantoaxial Rotatory Subluxation in Children: A Clinical Review

Kempeneers, Marinus A. / Buis, Dennis R. / Feller, Ricardo E. / Roosendaal, Stefan D. / Slot, K. Mariam / Wolf, Nicole I. / Vandertop, W. Peter

Neuropediatrics

2024

Abstract: A small proportion of children with a sudden onset torticollis (“wry neck”) presents with an atlantoaxial rotatory subluxation, usually after mild trauma or recent head or neck infection. Torticollis is a clinical diagnosis and imaging is usually not ... ...

Abstract	A small proportion of children with a sudden onset torticollis (“wry neck”) presents with an atlantoaxial rotatory subluxation, usually after mild trauma or recent head or neck infection. Torticollis is a clinical diagnosis and imaging is usually not indicated, though often performed in clinical practice. Atlantoaxial rotatory subluxation on imaging is often a physiological phenomenon in torticollis, and concomitant neurological symptoms are therefore rare. Treatment is primarily conservative, with analgesics, a rigid neck collar, and if needed benzodiazepines to counteract muscle spasms and anxiety. In case of treatment failure or chronic subluxation, cervical repositioning and fixation under general anesthesia may be considered. Surgical treatment is only indicated in a small percentage of patients with chronic refractory subluxation, concomitant cervical fractures, or congenital anomalies. Early diagnosis and treatment are important, since this is associated with a more successful conservative outcome than a prolonged approach.
Keywords	atlantoaxial rotatory subluxation ; torticollis ; pediatrics
Language	English
Publishing date	2024-04-24
Publisher	Georg Thieme Verlag KG
Publishing place	Stuttgart ; New York
Document type	Article
ZDB-ID	573291-8
ISSN	1439-1899 ; 0174-304X
ISSN (online)	1439-1899
ISSN	0174-304X
DOI	10.1055/a-2312-9994
Database	Thieme publisher's database

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Article ; Online: Adaptive behavior assessed by Vineland-3 as comprehensive outcome measure in vanishing white matter.

Schoenmakers, Daphne H / van Beelen, Irene / Voermans, Marije M C / Perik, Denise / Stellingwerff, Menno D / Wolf, Nicole I / Berkhof, Johannes / van der Knaap, Marjo S

Annals of clinical and translational neurology

2024 Volume 11, Issue 3, Page(s) 650–661

Abstract: Objectives: Investigate the results and usability of the Vineland-3 as an outcome measure in vanishing white matter patients.: Methods: A cross-sectional investigation of the Vineland-3 based on interviews with caregivers, the Health Utilities Index, ...

Abstract	Objectives: Investigate the results and usability of the Vineland-3 as an outcome measure in vanishing white matter patients. Methods: A cross-sectional investigation of the Vineland-3 based on interviews with caregivers, the Health Utilities Index, and the modified Rankin Scale in 64 vanishing white matter patients. Results: Adaptive behavior measured with the Vineland-3 is impaired in the vast majority of vanishing white matter patients and significantly impacts daily life. Typically, the daily living skills domain is most severely affected and the socialization domain is the least affected. Based on the metric properties and the clinical relevance, the standard scores for the daily living skills domain and Adaptive Behavior Composite have the best properties to be used as an outcome measure. Interpretation: The Vineland-3 appears to be a useful outcome measure to explore and quantify complex cognitive, behavioral, and psychiatric impairments affecting daily functioning in vanishing white matter. Further research should address the longitudinal evaluation of this tool and its additional value to standard neuropsychological and clinical examination.
MeSH term(s)	Humans ; Cross-Sectional Studies ; White Matter/diagnostic imaging ; Adaptation, Psychological ; Communication ; Socialization
Language	English
Publishing date	2024-01-12
Publishing country	United States
Document type	Journal Article
ZDB-ID	2740696-9
ISSN	2328-9503 ; 2328-9503
ISSN (online)	2328-9503
ISSN	2328-9503
DOI	10.1002/acn3.51985
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Article ; Online: Progressive demyelinating polyneuropathy after hematopoietic cell transplantation in metachromatic leukodystrophy: a case series.

Beerepoot, Shanice / Boelens, Jaap Jan / Lindemans, Caroline / de Witte, Moniek A / Nierkens, Stefan / Vrancken, Alexander F J E / van der Knaap, Marjo S / Bugiani, Marianna / Wolf, Nicole I

Journal of neurology

2024

Abstract: Metachromatic leukodystrophy (MLD) is a neuro-metabolic disorder due to arylsulfatase A deficiency, causing demyelination of the central and peripheral nervous system. Hematopoietic cell transplantation (HCT) can provide a symptomatic and survival ... ...

Abstract	Metachromatic leukodystrophy (MLD) is a neuro-metabolic disorder due to arylsulfatase A deficiency, causing demyelination of the central and peripheral nervous system. Hematopoietic cell transplantation (HCT) can provide a symptomatic and survival benefit for pre-symptomatic and early symptomatic patients by stabilizing CNS disease. This case series, however, illustrates the occurrence of severely progressive polyneuropathy shortly after HCT in two patients with late-infantile, one with late-juvenile, and one with adult MLD, leading to the inability to walk or sit without support. The patients had demyelinating polyneuropathy before HCT, performed at the ages of 2 years in the first two patients and at 14 and 23 years in the other two patients. The myeloablative conditioning regimen consisted of busulfan, fludarabine and, in one case, rituximab, with anti-thymocyte globulin, cyclosporine, steroids, and/or mycophenolate mofetil for GvHD prophylaxis. Polyneuropathy after HCT progressed parallel with tapering immunosuppression and paralleled bouts of infection and graft-versus-host disease (GvHD). Differential diagnoses included MLD progression, neurological GvHD or another (auto)inflammatory cause. Laboratory, electroneurography and pathology investigations were inconclusive. In two patients, treatment with immunomodulatory drugs led to temporary improvement, but not sustained stabilization of polyneuropathy. One patient showed recovery to pre-HCT functioning, except for a Holmes-like tremor, for which a peripheral origin cannot be excluded. One patient showed marginal response to immunosuppressive treatment and died ten months after HCT due to respiratory failure. The extensive diagnostic and therapeutic attempts highlight the challenge of characterizing and treating progressive polyneuropathy in patients with MLD shortly after HCT. We advise to consider repeat electro-neurography and possibly peripheral nerve biopsy in such patients. Nerve conduction blocks, evidence of the presence of T lymphocytes and macrophages in the neuronal and surrounding nerve tissue, and beneficial effects of immunomodulatory drugs may indicate a partially (auto)immune-mediated pathology. Polyneuropathy may cause major residual disease burden after HCT. MLD patients with progressive polyneuropathy could potentially benefit from a more intensified immunomodulatory drug regime following HCT, especially at times of immune activation.
Language	English
Publishing date	2024-04-02
Publishing country	Germany
Document type	Journal Article
ZDB-ID	187050-6
ISSN	1432-1459 ; 0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
ISSN (online)	1432-1459
ISSN	0340-5354 ; 0012-1037 ; 0939-1517 ; 1619-800X
DOI	10.1007/s00415-024-12322-3
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