nach oben

Erschienen in:

16.01.2020 | Original Communication

White matter and cerebellar involvement in alternating hemiplegia of childhood

verfasst von: Mariasavina Severino, Livia Pisciotta, Domenico Tortora, Benedetta Toselli, Michela Stagnaro, Ramona Cordani, Giovanni Morana, Anna Zicca, Svetlana Kotzeva, Clelia Zanaboni, Giovanni Montobbio, Andrea Rossi, Elisa De Grandis, the IBAHC Consortium

Erschienen in: Journal of Neurology | Ausgabe 5/2020

Einloggen, um Zugang zu erhalten

Abstract

Objective

To determine whether brain volumetric and white matter microstructural changes are present and correlate with neurological impairment in subjects with alternating hemiplegia of childhood (AHC).

Methods

In this prospective single-center study, 12 AHC subjects (mean age 22.9 years) and 24 controls were studied with 3DT1-weighted MR imaging and high angular resolution diffusion imaging at 3T. Data obtained with voxel-based morphometry and tract-based spatial statistics were correlated with motor impairment using the International Cooperative Ataxia Rating Scale (ICARS) and Movement and Disability sub-scales of Burke-Fahn-Marsden Dystonia Rating Scale (BFMMS and BFMDS).

Results

Compared to healthy controls, AHC subjects showed lower total brain volume (P < 0.001) and white matter volume (P = 0.002), with reduced clusters of white matter in frontal and parietal regions (P < 0.001). No significant regional differences were found in cortical or subcortical grey matter volumes. Lower cerebellar subvolumes correlated with worse ataxic symptoms and global motor impairment in AHC group (P < 0.001). Increased mean and radial diffusivity values were found in the corpus callosum, corticospinal tracts, superior and inferior longitudinal fasciculi, subcortical frontotemporal white matter, internal and external capsules, and optic radiations (P < 0.001). These diffusion scalar changes correlated with higher ICARS and BFMDS scores (P < 0.001).

Interpretation

AHC subjects showed prevalent white matter involvement, with reduced volume in several cerebral and cerebellar regions associated with widespread microstructural changes reflecting secondary myelin injury rather than axonal loss. Conversely, no specific pattern of grey matter atrophy emerged. Lower cerebellar volumes, correlating with severity of neurological manifestations, seems related to disrupted developmental rather than neurodegenerative processes.

Nur mit Berechtigung zugänglich

Verret S, Steele JC (1971) Alternating hemiplegia in childhood: a report of eight patients with complicated migraine beginning in infancy. Pediatrics 47:675–680PubMed

Sweney MT, Silver K, Gerard-Blanluet M et al (2009) Alternating hemiplegia of childhood: early characteristics and evolution of a neurodevelopmental syndrome. Pediatrics 123:e534–e541. https://doi.org/10.1542/peds.2008-2027 CrossRefPubMed

Heinzen EL, Swoboda KJ, Hitomi Y et al (2012) De novo mutations in ATP1A3 cause alternating hemiplegia of childhood. Nat Genet 44:1030–1034. https://doi.org/10.1038/ng.2358 CrossRefPubMedPubMedCentral

Rosewich H, Thiele H, Ohlenbusch A et al (2012) Heterozygous de-novo mutations in ATP1A3 in patients with alternating hemiplegia of childhood: a whole-exome sequencing gene-identification study. Lancet Neurol 11:764–773. https://doi.org/10.1016/S1474-4422(12)70182-5 CrossRefPubMed

Panagiotakaki E, Gobbi G, Neville B et al (2010) Evidence of a non-progressive course of alternating hemiplegia of childhood: study of a large cohort of children and adults. Brain 133:3598–3610. https://doi.org/10.1093/brain/awq295 CrossRefPubMed

Saito Y, Sakuragawa N, Sasaki M et al (1998) A case of alternating hemiplegia of childhood with cerebellar atrophy. Pediatr Neurol 19:65–68CrossRef

Saito Y, Inui T, Sakakibara T et al (2010) Evolution of hemiplegic attacks and epileptic seizures in alternating hemiplegia of childhood. Epilepsy Res 90:248–258. https://doi.org/10.1016/j.eplepsyres.2010.05.013 CrossRefPubMed

Sasaki M, Ishii A, Saito Y, Hirose S (2017) Progressive brain atrophy in alternating hemiplegia of childhood. Mov Disord Clin Pract 4:406–411. https://doi.org/10.1002/mdc3.12451 CrossRefPubMedPubMedCentral

Pavlidis E, Uldall P, Gøbel Madsen C et al (2017) Alternating hemiplegia of childhood and a pathogenic variant of ATP1A3: a case report and pathophysiological considerations. Epileptic Disord 19:226–230. https://doi.org/10.1684/epd.2017.0913 CrossRefPubMed

10.

Giacanelli M, Petrucci A, Lispi L et al (2017) ATP1A3 mutant patient with alternating hemiplegia of childhood and brain spectroscopic abnormalities. J Neurol Sci 379:36–38. https://doi.org/10.1016/j.jns.2017.05.041 CrossRefPubMed

11.

Shanmugarajah PD, Hoggard N, Aeschlimann DP et al (2018) Phenytoin-related ataxia in patients with epilepsy: clinical and radiological characteristics. Seizure 56:26–30. https://doi.org/10.1016/j.seizure.2018.01.019 CrossRefPubMed

12.

Mendes A, Sampaio L (2016) Brain magnetic resonance in status epilepticus: a focused review. Seizure 38:63–67. https://doi.org/10.1016/j.seizure.2016.04.007 CrossRefPubMed

13.

Trouillas P, Takayanagi T, Hallett M et al (1997) International cooperative ataxia rating scale for pharmacological assessment of the cerebellar syndrome. The ataxia neuropharmacology committee of the world federation of neurology. J Neurol Sci 145:205–211CrossRef

14.

Burke RE, Fahn S, Marsden CD et al (1985) Validity and reliability of a rating scale for the primary torsion dystonias. Neurology 35:73–77CrossRef

15.

Good CD, Johnsrude IS, Ashburner J et al (2001) A voxel-based morphometric study of ageing in 465 normal adult human brains. Neuroimage 14:21–36. https://doi.org/10.1006/nimg.2001.0786 CrossRefPubMed

16.

Smith SM, Jenkinson M, Johansen-Berg H et al (2006) Tract-based spatial statistics: voxelwise analysis of multi-subject diffusion data. Neuroimage 31:1487–1505. https://doi.org/10.1016/j.neuroimage.2006.02.024 CrossRefPubMed

17.

Mori S, Oishi K, Faria AV (2009) White matter atlases based on diffusion tensor imaging. Curr Opin Neurol 22:362–369. https://doi.org/10.1097/WCO.0b013e32832d954b CrossRefPubMedPubMedCentral

18.

Toselli B, Tortora D, Severino M et al (2017) Improvement in white matter tract reconstruction with constrained spherical deconvolution and track density mapping in low angular resolution data: a pediatric study and literature review. Front Pediatr. https://doi.org/10.3389/fped.2017.00182 CrossRefPubMedPubMedCentral

19.

Winkler AM, Ridgway GR, Webster MA et al (2014) Permutation inference for the general linear model. Neuroimage 92:381–397. https://doi.org/10.1016/J.NEUROIMAGE.2014.01.060 CrossRefPubMedPubMedCentral

20.

Pisciotta L, Gherzi M, Stagnaro M et al (2017) Alternating hemiplegia of childhood: pharmacological treatment of 30 Italian patients. Brain Dev 39:521–528. https://doi.org/10.1016/j.braindev.2017.02.001 CrossRefPubMed

21.

Diedrichsen J, Zotow E (2015) Surface-based display of volume-averaged cerebellar imaging data. PLoS ONE 10:e0133402. https://doi.org/10.1371/journal.pone.0133402 CrossRefPubMedPubMedCentral

22.

Diedrichsen J, Balsters JH, Flavell J et al (2009) A probabilistic MR atlas of the human cerebellum. Neuroimage 46:39–46. https://doi.org/10.1016/j.neuroimage.2009.01.045 CrossRefPubMed

23.

Oblak AL, Hagen MC, Sweadner KJ et al (2014) Rapid-onset dystonia-parkinsonism associated with the I758S mutation of the ATP1A3 gene: a neuropathologic and neuroanatomical study of four siblings. Acta Neuropathol 128:81–98. https://doi.org/10.1007/s00401-014-1279-x CrossRefPubMedPubMedCentral

24.

Ikeda K, Onimaru H, Kawakami K (2017) Knockout of sodium pump α3 subunit gene (Atp1a3 −/− ) results in perinatal seizure and defective respiratory rhythm generation. Brain Res 1666:27–37. https://doi.org/10.1016/j.brainres.2017.04.014 CrossRefPubMed

25.

Ikeda K, Satake S, Onaka T et al (2013) Enhanced inhibitory neurotransmission in the cerebellar cortex of Atp1a3 -deficient heterozygous mice. J Physiol 591:3433–3449. https://doi.org/10.1113/jphysiol.2012.247817 CrossRefPubMedPubMedCentral

26.

Severino M, Lualdi S, Fiorillo C et al (2018) Unusual white matter involvement in EAST syndrome associated with novel KCNJ10 mutations. J Neurol. https://doi.org/10.1007/s00415-018-8826-7 CrossRefPubMed

27.

Bertini E, Zanni G, Boltshauser E (2018) Nonprogressive congenital ataxias. In: Handbook of clinical neurology. Elsevier, Amsterdam, pp 91–103CrossRef

28.

Boltshauser E (2004) Cerebellum-small brain but large confusion: a review of selected cerebellar malformations and disruptions. Am J Med Genet A 126A:376–385. https://doi.org/10.1002/ajmg.a.20662 CrossRefPubMed

29.

Burzynska AZ, Preuschhof C, Bäckman L et al (2010) Age-related differences in white matter microstructure: region-specific patterns of diffusivity. Neuroimage 49:2104–2112. https://doi.org/10.1016/j.neuroimage.2009.09.041 CrossRefPubMed

30.

Chong CD, Schwedt TJ (2015) Migraine affects white-matter tract integrity: a diffusion-tensor imaging study. Cephalalgia 35:1162–1171. https://doi.org/10.1177/0333102415573513 CrossRefPubMed

31.

Whitlow CT, Brashear A, Ghetti B, Hagen MC, Sweadner KJ, Maldjian JA (2012) Structural abnormalities in the brain associated with rapid onset dystonia-parkinsonism: a preliminary investigation. 2012 annual meeting, sunday, October 7, 2012 poster session abstracts. Ann Neurol 72:S1–S120. https://doi.org/10.1002/ana.23769 CrossRef

32.

Tan AH, Ong TL, Ramli N et al (2019) Alternating hemiplegia of childhood in a person of malay ethnicity with diffusion tensor imaging abnormalities. J Mov Disord 12:132–134. https://doi.org/10.14802/jmd.18063 CrossRefPubMedPubMedCentral

Titel: White matter and cerebellar involvement in alternating hemiplegia of childhood
verfasst von: Mariasavina Severino
Livia Pisciotta
Domenico Tortora
Benedetta Toselli
Michela Stagnaro
Ramona Cordani
Giovanni Morana
Anna Zicca
Svetlana Kotzeva
Clelia Zanaboni
Giovanni Montobbio
Andrea Rossi
Elisa De Grandis
the IBAHC Consortium
Publikationsdatum: 16.01.2020
Verlag: Springer Berlin Heidelberg
Erschienen in: Journal of Neurology / Ausgabe 5/2020
Print ISSN: 0340-5354
Elektronische ISSN: 1432-1459
DOI: https://doi.org/10.1007/s00415-020-09698-3

Leitlinien kompakt für die Neurologie

Mit medbee Pocketcards sicher entscheiden.

^{Seit 2022 gehört die medbee GmbH zum Springer Medizin Verlag}

Kostenlos registrieren

Neu im Fachgebiet Neurologie

16.04.2024 | Maligne primäre ZNS-Tumoren | Nachrichten

Update Neurologie

Bestellen Sie unseren Fach-Newsletter und bleiben Sie gut informiert.

Newsletter bestellen

Springer Medizin

White matter and cerebellar involvement in alternating hemiplegia of childhood

Abstract

Objective

Methods

Results

Interpretation

Leitlinien kompakt für die Neurologie

Neu im Fachgebiet Neurologie

Manche Gestagene können das Risiko für Meningeome erhöhen

Parkinson: Größere Studie bestätigt Genauigkeit von Hauttest

Simple Kortisontherapie stoppt primär progrediente Aphasie

Impostor-Syndrom häufig bei Hyperhidrose zu finden

Update Neurologie

Springer Medizin

Abstract

Objective

Methods

Results

Interpretation

Bitte loggen Sie sich ein, um Zugang zu diesem Inhalt zu erhalten

Weitere Artikel der Ausgabe 5/2020

Magnetic resonance imaging in immune-mediated myelopathies

Brain MRI of multiple system atrophy of cerebellar type: a prospective study with implications for diagnosis criteria

Nonmotor symptoms of 820 Taiwanese patients with Parkinson’s disease: an exploratory-comparative study

Eufemiusz J. Herman (1892–1985)

Minimally conscious state “plus”: diagnostic criteria and relation to functional recovery

Complications in cranioplasty after decompressive craniectomy: timing of the intervention

Leitlinien kompakt für die Neurologie

Neu im Fachgebiet Neurologie

Manche Gestagene können das Risiko für Meningeome erhöhen

Parkinson: Größere Studie bestätigt Genauigkeit von Hauttest

Simple Kortisontherapie stoppt primär progrediente Aphasie

Impostor-Syndrom häufig bei Hyperhidrose zu finden

Update Neurologie