A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study

Saijo, Harumi; Nakayama, Harumi; Ezoe, Takanori; Araki, Katsuhito; Sone, Sui; Hamaguchi, Hiroshi; Suzuki, Hajime; Shiroma, Naohide; Kanazawa, Naomi; Tsujino, Seiichi; Hirayama, Yoshito; Arima, Masataka

doi:10.1016/s0387-7604(03)00006-8

Cited by 37 publications

(22 citation statements)

References 8 publications

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“…Two of them were homozygous for a previously-described mutation, S93L, and one was a compound heterozygote, with the S93L mutation on one allele and a novel mutation, 452-468del+g, which leads to a frameshift with a premature termination codon on the other allele. Together with results from a previous report (Leegwater et al 2001) that described three Japanese patients who had three different mutations, S93L, S280L, and IVS11-2A>G, and with our previous report (Saijo et al 2003) describing one Japanese patient who was homozygous for S93L, molecular genetic basis for this disorder has been established for a total of seven Japanese patients. In summary, S93L was observed six of seven (85.7%) patients at least in one allele, and ten of 14 (71.4%) alleles had this mutation.…”

Section: Discussionsupporting

confidence: 74%

“…While most patients who have been reported were below age 20 (van der Knaap et al 1995;Topc¸u et al 1998;Yalc¸inkaya et al 2000;Ben-Zeev et al 2001), the patients we describe are older: 23, 26, and 32 years for patients 1, 2, and 3 in this report, and 41 years for the patient we had previously reported (Saijo et al 2003). This implies that, with appropriate care, patients with van der Knaap disease may have a good prognosis.…”

Section: Discussionmentioning

confidence: 46%

“…Therefore, S93L appears to be fairly frequent in Japanese patients with van der Knaap disease, and analysis for this mutation in DNA isolated from leukocytes would provide for an easy and precise diagnosis of this disorder in Japanese patients. Although all the previous studies on the MLC1 gene used the genomic DNA from patients, we succeeded in effectively amplifying the MLC1 cDNA by RT-PCR from RNA extracted from leukocytes of patients in this study as well as a previous report (Saijo et al 2003). While the protein encoded by the MLC1 gene may function mainly in the central nervous system, our results indicate that it is expressed in peripheral leukocytes at least sufficiently for RT-PCR.…”

Section: Discussionmentioning

confidence: 57%

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A common mutation and a novel mutation in Japanese patients with van der Knaap disease

Tsujino

Kanazawa

Yoneyama³

et al. 2003

J Hum Genet

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Van der Knaap disease, or megalencephalic leukoencephalopathy with subcortical cysts (MLC), is an autosomal recessive disorder clinically characterized by macrocephaly, ataxia, spasticity, and mental decline. Magnetic resonance imaging (MRI) shows swollen brain with diffuse white-matter abnormalities and subcortical cysts, particularly in the anterior-temporal region. Recently, the MLC1 gene was identified as the gene responsible for this disorder, and mutations in this gene were described in several patients. We studied three Japanese patients with van der Knaap disease at the molecular genetic level. Two of them were homozygous for a previously-described mutation, S93L, and one was a compound heterozygote for S93L and a novel mutation, 452-468del+g, which leads to frameshift with a premature termination codon. Combining our data with previous reports allowed us to estimate the molecular genetic basis of this disorder in seven Japanese patients. In summary, S93L was observed in six of seven (85.7%) patients at least in one allele, and ten of 14 (71.4%) alleles had this mutation. Therefore, S93L appears to be fairly frequent in Japanese patients with van der Knaap disease, and analysis for this mutation in DNA isolated from leukocytes would provide for an easy and precise diagnosis of this disorder in Japanese patients.

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Section: Discussionsupporting

confidence: 74%

Section: Discussionmentioning

confidence: 46%

Section: Discussionmentioning

confidence: 57%

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A common mutation and a novel mutation in Japanese patients with van der Knaap disease

Tsujino

Kanazawa

Yoneyama³

et al. 2003

J Hum Genet

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“…After obtaining written informed consent from the patient's brother, sequencing of MLC1 cDNA from peripheral leukocytes was performed, as previously reported (3,4). This examination revealed the presence of a 393C>T mutation, resulting in a missense mutation of S93L.…”

Section: A B C D E Fmentioning

confidence: 95%

A Japanese Adult Case of Megalencephalic Leukoencephalopathy with Subcortical Cysts with a Good Long-term Prognosis

et al. 2012

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Megalencephalic leukoencephalopathy with subcortical cysts (MLC) is a recently recognized neurological disease, and mutations in the MLC1 gene have been identified as the cause of the disorder. A 54-year-old Japanese woman with macrocephaly presented with progressive mental decline, gait disturbance due to spasticity and ataxia, and choreoathetotic movement in the left upper extremity. Brain magnetic resonance imaging (MRI) revealed characteristic subcortical cysts in addition to diffuse white matter involvement. Genetic analysis of the MLC1 gene identified an S93L mutation in a homozygous state. This case is particularly valuable because of the lack of knowledge on the long-term prognosis of MLC.

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“…Yine mental-motor retardasyon, zor entübasyon ve elektrolit bozukluklarıyla seyreden Williams sendromunda malign hipertermi yönünden dikkatli olunmalı, kardiyak ve renal fonksiyonlar preoperatif dönemde dikkatlice değerlendirilmelidir [6]. Nörodejeneratif bir hastalık olan Van der Knaap hastalığında ise epileptik nöbetler, ataksik yürüyüş ve spastisite görülebil-mektedir [7]. (6,5) Bu hasta grubunda epilepsi oranı genel nüfus popülasyonuna göre daha yüksek oranda görülebilmektedir [8].…”

Section: Discussionunclassified

Our Sedation Experience on Mentally Retarded Patients

Alkan¹,

Kip²,

Şahin³

et al. 2015

Ann Clin Anal Med

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ÖzetAmaç: Günümüzde dental tedavilerin büyük bir kısmı lokal anestezi altında yapılabilmektedir. Ancak mental retarde hastalarda olduğu gibi kooperasyon kurulamadığı zamanlarda bu tedavilerin yapılabilmesi için sıklıkla sedasyon veya genel anestezi gerekebilmektedir. Bu çalışmada sedasyon altında diş tedavileri yapılan mental retarde olguların retrospektif olarak incelenmesi amaçlanmıştır. Gereç ve Yöntem: Çalışmamızda 2010-2012 tarihleri arasında sedasyon altında diş tedavileri yapılan 214 mental retarde olgunun kayıtlarını retrospektif olarak inceledik. Demografik veriler, anestezi süreleri, kullandık-ları antiepileptik ilaç oranları, sedasyon düzeyleri, sedasyon amacıyla kullanı-lan anestezik ajanlar, hangi dental tedavinin uygulandığı sedasyon sürecinde ve sonrasında görülen yan etkiler incelendi. Bulgular: Çalışmamızda incelenen 214 olgunun yaş ortalaması 22,49±9,54, kadın/erkek oranı 109/105, ASA I/ II/III sırasıyla 43/157/14 olarak belirlendi. Hastalarımızın %16.8'i (n=36) bir %29.9'u (n=54) ise birden fazla antiepileptik ilaç kullanıyordu. Sedasyon dü-zeyleri; minimal sedasyon %6.5 (n=14), orta derecede sedasyon %35 (n=75) ve derin sedasyon %58.4 (n=125) olarak belirlenmiştir. En çok kullanılan anestezik ajan %41.1 oranıyla (n=88) midazolam-ketamin kombinasyonu idi. En sık uygulanan tedavi ise %58.4 (n=125) oranında tek başına diş çekimiydi. Hastaların %3.7'sinde (n=8) postoperatif bulantı-kusma, iki hastada işlem sı-rasında solunum depresyonu, iki hastada bronkospazm ve birer hastada sıra-sıyla postoperatif ajitasyon, derin bradikardi, alerjik reaksiyon gelişti. Tartış-ma: Diş hekimliğinde uygun anestezik ilaç ve yöntemin seçimiyle mental retarde hastalarda solunum ve refleksler baskılanmadan sedasyon uygulaması-nın güvenli bir şekilde uygulanabileceği kanısındayız. Anahtar Kelimeler Mental Retardasyon; Sedasyon; Engelliler için Diş BakımıAbstract Aim: The majority of dental treatments can be performed under local anesthesia. However, sedation or general anesthesia are often required for mentally retarded patients presenting a lack of cooperation. The aim of this study was to retrospectively evaluate the outcomes of mentally retarded patients treated under sedation. Material and Method: The records of the 214 mentally retarded patients that were treated under sedation between 2010-2012 were retrospectively evaluated. The retrospective data included demographic variables, duriation of anesthesia, anti-epileptic drugs used, level of sedation, anesthetic agents, the type of dental treatment and adverse events during and after sedation. Results: In this study the mean age of patients was 22,49±9,54. The female/male ratio was 109/105. The number of ASA I, II, III patients were 43, 157 and 14 respectively. 16.8% of the patiens (n=36) was on one anti-epileptic drug regimen, while 29.9% of the patiens (n=54) was on more than one anti-epileptic drug regimen. The sedation levels were determined as minimal sedation (6.5%, n=14), moderate sedation (35%, n=75) and deep sedation (58.4%, n=125) respectively. The midaz...

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A case of megalencephalic leukoencephalopathy with subcortical cysts (van der Knaap disease): molecular genetic study

Cited by 37 publications

References 8 publications

A common mutation and a novel mutation in Japanese patients with van der Knaap disease

A common mutation and a novel mutation in Japanese patients with van der Knaap disease

A Japanese Adult Case of Megalencephalic Leukoencephalopathy with Subcortical Cysts with a Good Long-term Prognosis

Our Sedation Experience on Mentally Retarded Patients

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