Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: Functional magnetic resonance imaging (MRI) study

Melissa A. Parisi, Joseph Pinter, Ian A. Glass, Katherine Field, Bernard L. Maria, Phillip F. Chance, Roderick K. Mahurin, Steven C. Cramer

Research output: Contribution to journalArticle

22 Citations (Scopus)

Abstract

Joubert syndrome is an autosomal recessive disorder characterized by hypotonia, ataxia, developmental delay, and a distinctive hindbrain malformation involving the cerebellum and brain stem, visualized radiographically on magnetic resonance imaging (MRI) as the "molar tooth sign." In postmortem brains from subjects with Joubert syndrome, there is an apparent absence of decussation of both corticospinal and superior cerebellar tracts, although the functional significance has not been elucidated. We sought to explore the cerebral and cerebellar activation pattern elicited by finger tapping in an adolescent with Joubert syndrome and in a normal control subject using functional MRI. In contrast to the typical highly lateralized activation seen in our control subject, the subject with Joubert syndrome demonstrated striking bilateral activation of the sensorimotor and cerebellar cortex. Although our functional MRI data do not indicate a clear absence of decussation, the abnormal activation pattern observed suggests altered brain functional organization in relation to anatomic differences. Malformation of the hindbrain could result in recruitment of alternative pathways, similar to what has been observed following ischemic injury to the developing or mature central nervous system.

Original languageEnglish (US)
Pages (from-to)214-218
Number of pages5
JournalJournal of Child Neurology
Volume19
Issue number3
StatePublished - Mar 2004
Externally publishedYes

Fingerprint

Magnetic Resonance Imaging
Rhombencephalon
Cerebellar Cortex
Muscle Hypotonia
Brain
Ataxia
Cerebellum
Fingers
Brain Stem
Tooth
Central Nervous System
Joubert syndrome 1
Wounds and Injuries

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health

Cite this

Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome : Functional magnetic resonance imaging (MRI) study. / Parisi, Melissa A.; Pinter, Joseph; Glass, Ian A.; Field, Katherine; Maria, Bernard L.; Chance, Phillip F.; Mahurin, Roderick K.; Cramer, Steven C.

In: Journal of Child Neurology, Vol. 19, No. 3, 03.2004, p. 214-218.

Research output: Contribution to journalArticle

Parisi, MA, Pinter, J, Glass, IA, Field, K, Maria, BL, Chance, PF, Mahurin, RK & Cramer, SC 2004, 'Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: Functional magnetic resonance imaging (MRI) study', Journal of Child Neurology, vol. 19, no. 3, pp. 214-218.
Parisi, Melissa A. ; Pinter, Joseph ; Glass, Ian A. ; Field, Katherine ; Maria, Bernard L. ; Chance, Phillip F. ; Mahurin, Roderick K. ; Cramer, Steven C. / Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome : Functional magnetic resonance imaging (MRI) study. In: Journal of Child Neurology. 2004 ; Vol. 19, No. 3. pp. 214-218.
@article{3123305989b44a729607257b1432af19,
title = "Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome: Functional magnetic resonance imaging (MRI) study",
abstract = "Joubert syndrome is an autosomal recessive disorder characterized by hypotonia, ataxia, developmental delay, and a distinctive hindbrain malformation involving the cerebellum and brain stem, visualized radiographically on magnetic resonance imaging (MRI) as the {"}molar tooth sign.{"} In postmortem brains from subjects with Joubert syndrome, there is an apparent absence of decussation of both corticospinal and superior cerebellar tracts, although the functional significance has not been elucidated. We sought to explore the cerebral and cerebellar activation pattern elicited by finger tapping in an adolescent with Joubert syndrome and in a normal control subject using functional MRI. In contrast to the typical highly lateralized activation seen in our control subject, the subject with Joubert syndrome demonstrated striking bilateral activation of the sensorimotor and cerebellar cortex. Although our functional MRI data do not indicate a clear absence of decussation, the abnormal activation pattern observed suggests altered brain functional organization in relation to anatomic differences. Malformation of the hindbrain could result in recruitment of alternative pathways, similar to what has been observed following ischemic injury to the developing or mature central nervous system.",
author = "Parisi, {Melissa A.} and Joseph Pinter and Glass, {Ian A.} and Katherine Field and Maria, {Bernard L.} and Chance, {Phillip F.} and Mahurin, {Roderick K.} and Cramer, {Steven C.}",
year = "2004",
month = "3",
language = "English (US)",
volume = "19",
pages = "214--218",
journal = "Journal of Child Neurology",
issn = "0883-0738",
publisher = "SAGE Publications Inc.",
number = "3",

}

TY - JOUR

T1 - Cerebral and cerebellar motor activation abnormalities in a subject with Joubert syndrome

T2 - Functional magnetic resonance imaging (MRI) study

AU - Parisi, Melissa A.

AU - Pinter, Joseph

AU - Glass, Ian A.

AU - Field, Katherine

AU - Maria, Bernard L.

AU - Chance, Phillip F.

AU - Mahurin, Roderick K.

AU - Cramer, Steven C.

PY - 2004/3

Y1 - 2004/3

N2 - Joubert syndrome is an autosomal recessive disorder characterized by hypotonia, ataxia, developmental delay, and a distinctive hindbrain malformation involving the cerebellum and brain stem, visualized radiographically on magnetic resonance imaging (MRI) as the "molar tooth sign." In postmortem brains from subjects with Joubert syndrome, there is an apparent absence of decussation of both corticospinal and superior cerebellar tracts, although the functional significance has not been elucidated. We sought to explore the cerebral and cerebellar activation pattern elicited by finger tapping in an adolescent with Joubert syndrome and in a normal control subject using functional MRI. In contrast to the typical highly lateralized activation seen in our control subject, the subject with Joubert syndrome demonstrated striking bilateral activation of the sensorimotor and cerebellar cortex. Although our functional MRI data do not indicate a clear absence of decussation, the abnormal activation pattern observed suggests altered brain functional organization in relation to anatomic differences. Malformation of the hindbrain could result in recruitment of alternative pathways, similar to what has been observed following ischemic injury to the developing or mature central nervous system.

AB - Joubert syndrome is an autosomal recessive disorder characterized by hypotonia, ataxia, developmental delay, and a distinctive hindbrain malformation involving the cerebellum and brain stem, visualized radiographically on magnetic resonance imaging (MRI) as the "molar tooth sign." In postmortem brains from subjects with Joubert syndrome, there is an apparent absence of decussation of both corticospinal and superior cerebellar tracts, although the functional significance has not been elucidated. We sought to explore the cerebral and cerebellar activation pattern elicited by finger tapping in an adolescent with Joubert syndrome and in a normal control subject using functional MRI. In contrast to the typical highly lateralized activation seen in our control subject, the subject with Joubert syndrome demonstrated striking bilateral activation of the sensorimotor and cerebellar cortex. Although our functional MRI data do not indicate a clear absence of decussation, the abnormal activation pattern observed suggests altered brain functional organization in relation to anatomic differences. Malformation of the hindbrain could result in recruitment of alternative pathways, similar to what has been observed following ischemic injury to the developing or mature central nervous system.

UR - http://www.scopus.com/inward/record.url?scp=2342424350&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=2342424350&partnerID=8YFLogxK

M3 - Article

C2 - 15119482

AN - SCOPUS:2342424350

VL - 19

SP - 214

EP - 218

JO - Journal of Child Neurology

JF - Journal of Child Neurology

SN - 0883-0738

IS - 3

ER -