12-year-old male with Elejalde syndrome (neuroectodermal melanolysosomal disease)

Ivanovich, Jennifer; Mallory, Susan B.; Storer, Timothy; Ciske, David J.; Hing, Anne V.

doi:10.1002/1096-8628(20010201)98:4<313::aid-ajmg1098>3.0.co;2-p

Cited by 22 publications

(28 citation statements)

References 15 publications

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“…GS1 and ES are rare autosomal recessive genetic disorders and develop severe neurological impairment in addition to a defect of pigmentation in the hair and skin during infancy (Pastural et al, 2000;Ivanovich et al, 2001;Sanal et al, 2002). Although abnormal distribution of pigment granules in melanocytes has been shown, no pathophysiological examination of the nervous system has been made in GS1 and ES patients.…”

Section: Discussionmentioning

confidence: 99%

“…Our results implied that myosin Va is important for the extension of SER into PC spines and is involved in synaptic plasticity of the cerebellum. This finding might partially account for the disease background of GS1 and ES patients who show ataxic cerebellar movement and cerebellar atrophy (Sanal et al, 2000(Sanal et al, , 2002Ivanovich et al, 2001). However, they are still insufficient to understand all of the pathological processes of this neurological defect.…”

Section: Introductionmentioning

confidence: 98%

“…Elejalde syndrome (ES) (OMIM 256710) (Ivanovich et al, 2001) in humans is also thought to be the same disease entity as GS1. GS1 and ES patients manifest hypopigmentation of the hair and skin and neurological dysfunctions such as marked motor development delay, hypotonia, ataxia, and mental retardation.…”

Section: Introductionmentioning

confidence: 99%

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A Role for Myosin Va in Cerebellar Plasticity and Motor Learning: A Possible Mechanism Underlying Neurological Disorder in Myosin Va Disease

Miyata

Kishimoto²,

Tanaka³

et al. 2011

J. Neurosci.

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Mutations of the myosin Va gene cause the neurological diseases Griscelli syndrome type 1 and Elejalde syndrome in humans and dilute phenotypes in rodents. To understand the pathophysiological mechanisms underlying the neurological disorders in myosin Va diseases, we conducted an integrated analysis at the molecular, cellular, electrophysiological, and behavioral levels using the dilute-neurological (d-n) mouse mutant. These mice manifest an ataxic gait and clonic seizures during postnatal development, but the neurological disorders are ameliorated in adulthood. We found that smooth endoplasmic reticulum (SER) rarely extended into the dendritic spines of Purkinje cells (PCs) of young d-n mice, and there were few, if any, IP 3 receptors. Moreover, long-term depression (LTD) at parallel fiber-PC synapses was abolished, consistent with our previous observations in juvenile lethal dilute mutants.

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Section: Discussionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 98%

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A Role for Myosin Va in Cerebellar Plasticity and Motor Learning: A Possible Mechanism Underlying Neurological Disorder in Myosin Va Disease

Miyata

Kishimoto²,

Tanaka³

et al. 2011

J. Neurosci.

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“…Griscelli's syndrome type 1 (GS1), a developmental disorder resulting from a mutation to the myosin Va heavy chain and characterized by severe neurologic deficits, including hypotonia, quadraparesis, marked motor developmental delay, mental retardation, seizures, and ataxia (Pastural et al, 1997;Ivanovich et al, 2001;Anikster et al, 2002;Sanal et al, 2002;Bahadoran et al, 2003), may be a product of impaired myelination (Kelton and Rauch, 1962;Winterbourn et al, 1971;Noguchi et al, 1983;Pastural et al, 1997;Anikster et al, 2002). In this report, we test whether myosin Va loss of function impairs oligodendrocyte morphogenesis and myelination in a GS1 mouse model, dilute-lethal, which possesses a myosin Va-null mutation (Mercer et al, 1991).…”

Section: Introductionmentioning

confidence: 99%

Myosin Va Controls Oligodendrocyte Morphogenesis and Myelination

Sloane¹,

Vartanian²

2007

J. Neurosci.

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A product of myosin Va mutations, Griscelli's syndrome type 1 (GS1) is characterized by several neurologic deficits including quadraparesis, mental retardation, and seizures. Although multiple studies have not clearly established a cause for the neurologic deficits linked with GS1, a few reports suggest that GS1 is associated with abnormal myelination, which could cause the neurologic deficits seen with GS1. In this report, we investigate whether myosin Va is critical to oligodendrocyte morphology and to myelination in vivo. We found that myosin Va-null mice exhibit significantly impaired myelination of the brain, optic nerve, and spinal cord. Oligodendrocytes express myosin Va and loss of myosin Va function resulted in significantly smaller lamellas and decreased process number, length, and branching of oligodendrocytes. Loss of myosin Va function also blocked distal localization of vesicle-associated membrane protein 2 (VAMP2), which is known to associate with myosin Va. When VAMP2 function was disrupted, oligodendrocytes exhibited similar morphologic deficits to what is seen with functional ablation of myosin Va. Our findings establish a role for both myosin Va and VAMP2 in oligodendrocyte function as it relates to myelination.

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“…Gümüş renkli saçlar, pigment anormallikleri ve ciddi santral sinir sistemi disfonksiyonuna (nöbetler, ağır hipotoni ve mental retardasyon) gibi karakteristik özellikleri olan bu hastaların benzer özellikler göstermesi nedeniyle immün yetmezlikle seyreden Chediak-Higashi ve Griscelli Sendromlarıyla ayırıcı tanısının yapılması gereklidir (20). (13)(14).…”

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Is an Algorithm Useful in the Differential Diagnosis of the Hypotonic Infant? Evaluation of 53 Cases

Özaydın¹,

Ürey²,

Gündüz³

et al. 2013

Turkish J Pediatr Dis

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ÖzETAmaç: Bu çalışmanın amacı, hipotonik bebeklerin tanı profilini belirlemek ve tanı sürecinde bir algoritmanın gerekliliğini analiz etmektir. Gereç ve Yöntemler:Çalışmaya hipotoni şikayetiyle kabul edilen 53 hasta dahil edildi. Hipotonik bebekler klinik bulgularına göre iki gruba ayrıldı: Santral ve periferik. Klinik verilerin analizi ve araştırmaların sonuçlarıyla altı basamaklı bir algoritma oluşturuldu. bulgular: Otuz sekiz hastada santral hipotoni ve 15 hastada periferik hipotoni mevcuttu.Santral hipotonili hastalara dikkatli bir anamnez ve fizik muayeneden sonra basit karyotip analizi ve kranial görüntüleme ile %57.8 oranında tanı konulabildi. Nörometabolik hastalıklara daha ileri tetkiklerle tanı konuldu. Birinci basamak (klinik veriler ve fizik muayene) ve 2. basamak (kranial BT, MRI) 21 hastanın tanısını çözdü. Üçüncü basamakta (dismorfik bulgularla literatür taraması) ve dördüncü basamak (karyotip analizi) sonunda 6 hastanın tanı alması sağlandı. Beşinci basamakta biyokimyasal testlerle hastaların % 15'ine tanı konuldu. Altıncı basamaktaki testler (CK, EMG, SMA ve KMD için DNA analizi, kas biopsisi) 7 hasta için tanı koydurucuydu. Kalan dokuz hastaya tanı konulamadı.sonuç: Hipotonik infantların sistemik değerlendirilmesinde gereksiz tanı koydurucu işlemlerin yapılmasını önlemek amacıyla bir algoritmanın kullanılması yararlı olacaktır.Anahtar sözcükler: Algoritma, Ayırıcı tanı, Hipotoni, İnfant AbsTRACTObjective: The aim of this study was to determine the diagnostic profile of infants with hypotonia and to analyze the necessity of an algorithm in the diagnostic process. Material and Methods:Fifty-three patients admitted with the complaint of hypotonia were included in the study. The hypotonic infants were divided into two groups: central and peripheral hypotonia. An algorithm containing six steps was constructed with the analysis of clinical data and results of investigations.Results: Thirty-eight infants had central hypotonia and 15 had peripheral hypotonia. Through a careful medical history and physical examination, a diagnosis was made in 57.8% of the patients with hypotonia by a simple karyotype analysis and cranial MRI. The neurometabolic diseases were diagnosed with further investigations.Step 1 (clinical data and physical examination) and Step 2 (cranial CT, MRI) provided the diagnosis of 21 patients.Step 3 (literature search with dysmorphic findings) and Step 4 (karyotype analysis) contributed to the diagnosis of 6 patients. The diagnosis required biochemical tests in Step 5 in 15 percent of the patients. TheStep 6 tests (CK, EMG, DNA analysis for SMA and CMD, muscle biopsy) were diagnostic for 7 patients. The remaining nine patients could not be diagnosed. Conclusion:An algorithm would be useful for the systematic evaluation of hypotonic infants to prevent unnecessary diagnostic procedures.

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12-year-old male with Elejalde syndrome (neuroectodermal melanolysosomal disease)

Cited by 22 publications

References 15 publications

A Role for Myosin Va in Cerebellar Plasticity and Motor Learning: A Possible Mechanism Underlying Neurological Disorder in Myosin Va Disease

A Role for Myosin Va in Cerebellar Plasticity and Motor Learning: A Possible Mechanism Underlying Neurological Disorder in Myosin Va Disease

Myosin Va Controls Oligodendrocyte Morphogenesis and Myelination

Is an Algorithm Useful in the Differential Diagnosis of the Hypotonic Infant? Evaluation of 53 Cases

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