The molar tooth sign: A new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families

M. S. Zaki, Alice Kamal Abd El Aleem, G. Abdel-Salam, S. E. Marsh, J. L. Silhavy, A. J. Barkovich, M. E. Ross, S. N. Saleem, W. B. Dobyns, J. G. Gleeson

Research output: Contribution to journalReview article

30 Citations (Scopus)

Abstract

Joubert syndrome and related cerebellar disorders (JSRD) are a group of recessive congenital ataxia conditions usually showing neonatal hypotonia, dysregulated breathing rhythms, oculomotor apraxia, and mental retardation. The pathognomonic finding in JSRD is the unique molar tooth sign (MTS) on brain imaging. There is a tremendously broad spectrum of signs and symptoms mainly including kidney, retina, and liver disease, along with polydactyly and facial dysmorphisms. Here we propose a new diagnostic classification within JSRD that includes four major subtypes. To test this classification, we performed a systematic recruitment and genetic evaluation from a single referral center in Egypt. Thirteen families were identified, four showed evidence of linkage to one of the four known genetic loci, three showed novel AHI1 mutations, and nine were excluded from known loci. Each family could be classified into one of the four subtypes. This classification may thus be useful in the evaluation of patients with JSRD.

Original languageEnglish
Pages (from-to)556-565
Number of pages10
JournalNeurology
Volume70
Issue number7
DOIs
Publication statusPublished - Feb 2008
Externally publishedYes

Fingerprint

Cerebellar Diseases
Tooth
Polydactyly
Apraxias
Muscle Hypotonia
Genetic Loci
Egypt
Kidney Diseases
Ataxia
Neuroimaging
Intellectual Disability
Signs and Symptoms
Retina
Liver Diseases
Respiration
Referral and Consultation
Mutation
Joubert syndrome 1

ASJC Scopus subject areas

  • Neuroscience(all)

Cite this

The molar tooth sign : A new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. / Zaki, M. S.; Kamal Abd El Aleem, Alice; Abdel-Salam, G.; Marsh, S. E.; Silhavy, J. L.; Barkovich, A. J.; Ross, M. E.; Saleem, S. N.; Dobyns, W. B.; Gleeson, J. G.

In: Neurology, Vol. 70, No. 7, 02.2008, p. 556-565.

Research output: Contribution to journalReview article

Zaki, MS, Kamal Abd El Aleem, A, Abdel-Salam, G, Marsh, SE, Silhavy, JL, Barkovich, AJ, Ross, ME, Saleem, SN, Dobyns, WB & Gleeson, JG 2008, 'The molar tooth sign: A new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families', Neurology, vol. 70, no. 7, pp. 556-565. https://doi.org/10.1212/01.wnl.0000277644.12087.fd
Zaki, M. S. ; Kamal Abd El Aleem, Alice ; Abdel-Salam, G. ; Marsh, S. E. ; Silhavy, J. L. ; Barkovich, A. J. ; Ross, M. E. ; Saleem, S. N. ; Dobyns, W. B. ; Gleeson, J. G. / The molar tooth sign : A new Joubert syndrome and related cerebellar disorders classification system tested in Egyptian families. In: Neurology. 2008 ; Vol. 70, No. 7. pp. 556-565.
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