Joubert syndrome: More than lower cerebellar vermis hypoplasia, less than a complex brain malformation

Boltshauser, Eugen

doi:10.1002/ajmg.10366

Cited by 7 publications

(5 citation statements)

References 11 publications

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“…Joubert syndrome (JBTS) is a rare autosomal recessive multisystem disorder characterized by aplasia of the cerebellar vermis, ataxia, abnormal eye movements, an abnormal breathing pattern in the neonatal period and psychomotor mental retardation [1,2,3]. On MRI brain imaging JBTS is characterized by a typical radiological finding, termed as "molar tooth sign" (MTS).…”

Section: Introductionmentioning

confidence: 99%

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

et al. 2005

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Joubert syndrome (JBTS) is an autosomal recessive multisystem disease characterized by cerebellar vermis aplasia, mental retardation, muscular hypotonia, an irregular breathing pattern in the neonatal period and abnormal eye movements. Some individuals have progressive renal failure characterized by nephronophthisis (NPHP) and/or retinal dystrophy. Homozygous deletions of NPHP1 on chromosome 2q13 have been identified in individuals with NPHP-associated JBTS. Recently, mutations in AHI1 on chromosome 6q23.3 were found in JBTS patients without NPHP. Here, by direct sequencing, we identify novel truncating mutations within AHI1 in affected patients from two families. One patient had the association of JBTS and NPHP with chronic renal failure. This is the first report of AHI1 mutations causing JBTS associated with NPHP, confirming the clinical and genetic heterogeneity of NPHP.

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Section: Introductionmentioning

confidence: 99%

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

et al. 2005

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“…This observation was called “vanishing cerebellum in Chiari II malformation” by Sener [1995]. We have seen this phenomenon in three children [Boltshauser et al, 2002]. Interestingly a remarkable asymmetry of tissue damage, affecting mainly one cerebellar hemisphere, was noted.…”

Section: Cerebellar Disruptionsmentioning

confidence: 76%

“…Judging from personal inquiries over years, it is my experience that JS is overdiagnosed. In a recent letter, attention was drawn to a number of wrongly diagnosed cases [Boltshauser et al, 2002]. In addition, many reports describing patients with Joubert or related syndromes focus on a special aspect such as nephrological symptoms and provide only a vague description of the brain neuroimaging [Keuth et al, 1996; Apostolou et al, 2001].…”

Section: Joubert Syndrome (Js)mentioning

confidence: 99%

Color separation for colored fiber blends based on the fuzzy C‐means cluster

Gao

Liu

2011

Color Research & Application

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Colored fibers can be blended in a certain proportion to achieve a specific color. It is a very hard task for the colorist to find a good recipe to meet the final product without the aid of computer. In this article, a color separation method for the colored fiber blends is discussed to substitute for some manual work. The fuzzy C‐means cluster is a way to group the color in the colored fiber blends image. The distance index, which is a key factor during the fuzzy C‐means cluster process, is calculated in the RGB color space and the HSV color space with some transformation. The final experiment result proved that the colors of each pixel in the blends' image can be replaced by corresponding cluster center associating colors in the HSV color space, and the main texture as well as the main color information about the fibers in the image is preserved. © 2011 Wiley Periodicals, Inc. Col Res Appl, 2012

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“…Posteriormente, varios trabajos han tratado de tipificar fenotípicamente con exactitud al síndrome de Joubert para diferenciarlo de otras variantes de hipoplasia cerebelar 7,8,9,10,11 .…”

Section: De La Hipoplasia Cerebelarunclassified

“…Sin embargo, Boltshauser 11 cuestiona diferentes artículos que ligaron erróneamente pacientes con el síndrome de Joubert, estando asociados a la enfermedad orofacial digital II y VI y con malformaciones cerebrales, o asociadas con la enfermedad de Gaucher tipo 1.…”

Section: De La Hipoplasia Cerebelarunclassified

Un caso de hipoplasia cerebelar humana asociada a consaguinidad múltiple

Scotto E.,

Paredes A.,

Manassero M.

2006

Horizmed

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Se reporta el estudio de tres pacientes con un alto grado de consanguinidad. Dos hermanos (hermano y hermana) y un primo hermano de 07, 12 y 03 años respectivamente, con un cuadro clínico de hipoplasia cerebelar severa caracterizada por la presencia de una anomalía en la conformación de las estructuras supratentorial e infratentorial. Presentaron un vermis rudimentario y un tronco cerebral de pequeño tamaño, encontrándose incrementada la cisterna prepontina y una inserción alta del tentorio. Además, presentaron disgenesia del cuerpo calloso, no apreciándose otras alteraciones a nivel de las estructuras supratentoriales ni asimetría en las circunvoluciones cerebrales. Los pacientes presentaron incoordinación en los movimientos de los ojos y de la cabeza, estrabismo, ptosis bilateral y oftalmoplejia leve; así mismo, ligera macrocefalia, orejas prominentes, escoliosis, presencia de lesiones hiperpigmentadas en la piel y otras manchas hipopigmentadas, hipotonía troncal y axial, nistagmus, bajo peso al nacimiento (2,7 a 2,9 Kg), problemas para la deglución de alimentos sólidos, retardo en el crecimiento y bajo coeficiente intelectual con un vocabulario limitado compuesto por palabras de dos sílabas. PALABRAS CLAVEHipoplasia cerebelar, herencia autosómica recesiva, consanguinidad.

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Joubert syndrome: More than lower cerebellar vermis hypoplasia, less than a complex brain malformation

Cited by 7 publications

References 11 publications

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

Identification of the first AHI1 gene mutations in nephronophthisis-associated Joubert syndrome

Color separation for colored fiber blends based on the fuzzy C‐means cluster

Un caso de hipoplasia cerebelar humana asociada a consaguinidad múltiple

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