Abstract
Objectives: To describe the spectrum of brainstem malformations associated to mutations in the tubulin genes taking advantage of magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI). Methods: Fifteen patients (six males; median age, 1.25 years; range, 1 month to 31 years) with mutations in the tubulin genes (TUBA1A = 8, TUBB2B = 4, TUBB3 = 3) studied with MRI and DTI were included in the study. Brain MR exams were reviewed to describe the malformative aspects of the brainstem. Malformations of the supratentorial brain and cerebellum were also recorded. Tractography was performed in seven selected cases. Results: Fourteen patients (93%) showed complex malformations of the brainstem. Most common findings, apparent on anatomical MR sequences, were brainstem asymmetry (12 cases, 5 of which with a crossed pattern characterised by a hypertrophic right medulla oblongata and hypertrophic left pons), short and small pons on midline (10 cases) and anterior brainstem clefting (6 cases). DTI revealed abnormal transverse pontine fibres (13 cases), fusion of corticospinal tracts and medial lemnisci (9 cases) and a small decussation of the superior cerebellar peduncles (7 cases). Conclusions: Conventional/anatomical MRI and DTI reveal a complex pattern of brainstem malformations associated with tubulin genes mutations. Key Points: • Brainstem malformations affect 93% patients with mutated tubulin genes • MRI shows homolateral and crossed brainstem asymmetries, clefts and pons hypoplasia • DTI demonstrates irregular representation of transverse pontine fibres and fusion of corticospinal tracts
| Original language | English |
|---|---|
| Journal | European Radiology |
| DOIs | |
| Publication status | Accepted/In press - Jan 1 2018 |
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Keywords
- Brain stem
- Diffusion tensor imaging
- Nervous system malformations
- Neurological rehabilitation
- Tubulin
ASJC Scopus subject areas
- Radiology Nuclear Medicine and imaging
Cite this
The spectrum of brainstem malformations associated to mutations of the tubulin genes family : MRI and DTI analysis. / Arrigoni, Filippo; Romaniello, Romina; Peruzzo, Denis; Poretti, Andrea; Bassi, Maria Teresa; Pierpaoli, Carlo; Valente, Enza Maria; Nuovo, Sara; Boltshauser, Eugen; Huisman, Thierry André Gerard Marie; Triulzi, Fabio; Borgatti, Renato.
In: European Radiology, 01.01.2018.Research output: Contribution to journal › Article
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TY - JOUR
T1 - The spectrum of brainstem malformations associated to mutations of the tubulin genes family
T2 - MRI and DTI analysis
AU - Arrigoni, Filippo
AU - Romaniello, Romina
AU - Peruzzo, Denis
AU - Poretti, Andrea
AU - Bassi, Maria Teresa
AU - Pierpaoli, Carlo
AU - Valente, Enza Maria
AU - Nuovo, Sara
AU - Boltshauser, Eugen
AU - Huisman, Thierry André Gerard Marie
AU - Triulzi, Fabio
AU - Borgatti, Renato
PY - 2018/1/1
Y1 - 2018/1/1
N2 - Objectives: To describe the spectrum of brainstem malformations associated to mutations in the tubulin genes taking advantage of magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI). Methods: Fifteen patients (six males; median age, 1.25 years; range, 1 month to 31 years) with mutations in the tubulin genes (TUBA1A = 8, TUBB2B = 4, TUBB3 = 3) studied with MRI and DTI were included in the study. Brain MR exams were reviewed to describe the malformative aspects of the brainstem. Malformations of the supratentorial brain and cerebellum were also recorded. Tractography was performed in seven selected cases. Results: Fourteen patients (93%) showed complex malformations of the brainstem. Most common findings, apparent on anatomical MR sequences, were brainstem asymmetry (12 cases, 5 of which with a crossed pattern characterised by a hypertrophic right medulla oblongata and hypertrophic left pons), short and small pons on midline (10 cases) and anterior brainstem clefting (6 cases). DTI revealed abnormal transverse pontine fibres (13 cases), fusion of corticospinal tracts and medial lemnisci (9 cases) and a small decussation of the superior cerebellar peduncles (7 cases). Conclusions: Conventional/anatomical MRI and DTI reveal a complex pattern of brainstem malformations associated with tubulin genes mutations. Key Points: • Brainstem malformations affect 93% patients with mutated tubulin genes • MRI shows homolateral and crossed brainstem asymmetries, clefts and pons hypoplasia • DTI demonstrates irregular representation of transverse pontine fibres and fusion of corticospinal tracts
AB - Objectives: To describe the spectrum of brainstem malformations associated to mutations in the tubulin genes taking advantage of magnetic resonance imaging (MRI) and diffusion tensor imaging (DTI). Methods: Fifteen patients (six males; median age, 1.25 years; range, 1 month to 31 years) with mutations in the tubulin genes (TUBA1A = 8, TUBB2B = 4, TUBB3 = 3) studied with MRI and DTI were included in the study. Brain MR exams were reviewed to describe the malformative aspects of the brainstem. Malformations of the supratentorial brain and cerebellum were also recorded. Tractography was performed in seven selected cases. Results: Fourteen patients (93%) showed complex malformations of the brainstem. Most common findings, apparent on anatomical MR sequences, were brainstem asymmetry (12 cases, 5 of which with a crossed pattern characterised by a hypertrophic right medulla oblongata and hypertrophic left pons), short and small pons on midline (10 cases) and anterior brainstem clefting (6 cases). DTI revealed abnormal transverse pontine fibres (13 cases), fusion of corticospinal tracts and medial lemnisci (9 cases) and a small decussation of the superior cerebellar peduncles (7 cases). Conclusions: Conventional/anatomical MRI and DTI reveal a complex pattern of brainstem malformations associated with tubulin genes mutations. Key Points: • Brainstem malformations affect 93% patients with mutated tubulin genes • MRI shows homolateral and crossed brainstem asymmetries, clefts and pons hypoplasia • DTI demonstrates irregular representation of transverse pontine fibres and fusion of corticospinal tracts
KW - Brain stem
KW - Diffusion tensor imaging
KW - Nervous system malformations
KW - Neurological rehabilitation
KW - Tubulin
UR - http://www.scopus.com/inward/record.url?scp=85052084606&partnerID=8YFLogxK
UR - http://www.scopus.com/inward/citedby.url?scp=85052084606&partnerID=8YFLogxK
U2 - 10.1007/s00330-018-5610-0
DO - 10.1007/s00330-018-5610-0
M3 - Article
AN - SCOPUS:85052084606
JO - European Radiology
JF - European Radiology
SN - 0938-7994
ER -