scholarly journals A novel homozygous variant in an Iranian pedigree with cerebellar ataxia, mental retardation, and dysequilibrium syndrome type 4

2020 ◽  
Vol 34 (11) ◽  
Author(s):  
Malihe Mohamadian ◽  
Pegah Ghandil ◽  
Mohsen Naseri ◽  
Afsane Bahrami ◽  
Ali Akbar Momen
Keyword(s):  
Mental Retardation ◽  
Cerebellar Ataxia ◽  
Syndrome Type ◽  
Homozygous Variant

Novel homozygous variant of carbonic anhydrase 8 gene expanding the phenotype of cerebellar ataxia, mental retardation, and disequilibrium syndrome subtype 3

2020 ◽  
Vol 182 (11) ◽  
pp. 2685-2693
Author(s):  
Lionel Paternoster ◽  
Julie Soblet ◽  
Alec Aeby ◽  
Xavier De Tiège ◽  
Serge Goldman ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Carbonic Anhydrase ◽  
Cerebellar Ataxia ◽  
Homozygous Variant ◽  
Subtype 3

Absence of PAX6 Gene Mutations in Gillespie Syndrome (Partial Aniridia, Cerebellar Ataxia, and Mental Retardation)

Genomics ◽  
1994 ◽  
Vol 19 (1) ◽  
pp. 145-148 ◽  
Author(s):  
Tom Glaser ◽  
Carl C.T. Ton ◽  
Robert Mueller ◽  
Maria Luiza Petzl-Erler ◽  
Christina Oliver ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cerebellar Ataxia ◽  
Gene Mutations ◽  
Pax6 Gene

Hereditary Cerebellar Ataxia with Peripheral Neuropathy and Mental Retardation

2000 ◽  
Vol 43 (2) ◽  
pp. 82-87 ◽  
Author(s):  
Nobutada Tachi ◽  
Naoki Kozuka ◽  
Kazuhiro Ohya ◽  
Shunzo Chiba ◽  
Kimio Sasaki
Keyword(s):  
Mental Retardation ◽  
Peripheral Neuropathy ◽  
Cerebellar Ataxia ◽  
Hereditary Cerebellar Ataxia

scholarly journals Mutations in VLDLR as a Cause for Autosomal Recessive Cerebellar Ataxia With Mental Retardation (Dysequilibrium Syndrome)

2009 ◽  
Vol 24 (10) ◽  
pp. 1310-1315 ◽  
Author(s):  
Kym M. Boycott ◽  
Carsten Bonnemann ◽  
Joachim Herz ◽  
Stephanie Neuert ◽  
Chandree Beaulieu ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cerebellar Ataxia ◽  
Autosomal Recessive ◽  
Autosomal Recessive Cerebellar Ataxia

scholarly journals A Novel BBS9 Mutation Identified via Whole-Exome Sequencing in a Chinese Family with Bardet-Biedl Syndrome

2021 ◽  
Vol 2021 ◽  
pp. 1-5
Author(s):  
Yue Zhang ◽  
Manhong Xu ◽  
Minglian Zhang ◽  
Guoxing Yang ◽  
Xiaorong Li
Keyword(s):  
Mental Retardation ◽  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Sanger Sequencing ◽  
Chinese Family ◽  
Cone Dystrophy ◽  
Bardet Biedl Syndrome ◽  
Homozygous Variant ◽  
Whole Exome

Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disorder characterized by polydactyly, obesity, rod-cone dystrophy, and mental retardation. Twenty-one genes have been identified as causing BBS. This study collected a BBS pedigree from two patients and performed whole-exome sequencing on one patient. We identified a novel homozygous variant c.1114C>T (p.Q372X) in the BBS9 of the two siblings. This variant was confirmed and completely cosegregated with the disease of this family by Sanger sequencing. We report a novel homozygous variant c.1114C>T in the BBS9 gene in a Chinese family.

scholarly journals Epileptic Seizure Following IV Tramadol in a Patient with Mental Retardation and Cerebellar Ataxia

Pain Medicine ◽  
2011 ◽  
Vol 12 (5) ◽  
pp. 833-836 ◽  
Author(s):  
Hale Yarkan Uysal ◽  
Bağnu Bilimgut ◽  
Bayazit Dikmen ◽  
Nurten Inan ◽  
Gülay Ülger ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Cerebellar Ataxia ◽  
Epileptic Seizure

Severe mental retardation in a patient with tricho-rhino-phalangeal syndrome type I and 8q deletion

1990 ◽  
Vol 149 (9) ◽  
pp. 618-620 ◽  
Author(s):  
A. Hamers ◽  
P. Jongbloet ◽  
G. Peeters ◽  
J. P. Fryns ◽  
J. Geraedts
Keyword(s):  
Mental Retardation ◽  
Type I ◽  
Syndrome Type ◽  
Severe Mental Retardation

scholarly journals Further Delineation of the Clinical Phenotype of Cerebellar Ataxia, Mental Retardation, and Disequilibrium Syndrome Type 4

2018 ◽  
Vol 10 ◽  
pp. 117957351875968 ◽  
Author(s):  
Saud Alsahli ◽  
Muhammad Talal Alrifai ◽  
Saeed Al Tala ◽  
Fuad Al Mutairi ◽  
Majid Alfadhel
Keyword(s):  
Mental Retardation ◽  
Cerebellar Ataxia ◽  
Genetic Disorders ◽  
Genetic Disorder ◽  
Brain Mri ◽  
Global Developmental Delay ◽  
Abnormal Movements ◽  
Whole Exome ◽  
Healthy Siblings ◽  
Magnetic Resonance Imaging Mri

Background: Cerebellar ataxia, mental retardation, and disequilibrium syndrome (CAMRQ) is a heterogeneous group of genetic disorders that have been grouped by shared clinical features; all of these features are transmitted via an autosomal recessive mechanism. Four variants of this syndrome have been identified so far, and each one differs in terms of both clinical and genotypical features. CAMRQ4 is a rare genetic disorder characterized by mental retardation, ataxia or an inability to walk, dysarthria and, in some patients, quadrupedal gait. Methods: We investigated three Saudi families with CAMRQ4. Blood samples were collected from the affected patients, their parents, and healthy siblings. DNA was extracted from whole blood, and whole-exome sequencing was performed. Findings were confirmed by segregation analysis, which was performed on other family members. Results: Thus far, 17 patients have been affected by CAMRQ4. Genetic analysis of all patients, including our current patients, showed a mutation in the aminophospholipid transporter, class I, type 8A, member 2 gene ( ATP8A2). A series of common phenotypical features have been reported in these patients, with few exceptions. Ataxia, mental retardation, and hypotonia were present in all patients, consanguinity in 90% and abnormal movements in 50%. Moreover, 40% achieved ambulation at least once in their lifetime, 40% had microcephaly, whereas 30% were mute. Magnetic resonance imaging (MRI) of the brain was normal in 60% of patients. Conclusions: We described the largest cohort of patients with CAMRQ4 syndrome and identified three novel mutations. CAMRQ4 syndrome should be suspected in patients presenting with ataxia, intellectual disability, hypotonia, microcephaly, choreoathetoid movements, ophthalmoplegia, and global developmental delay, even if brain MRI appears normal.

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