paraplegia/ataque epiléptico

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Recessive loss-of-function mutations in AP4S1 cause mild fever-sensitive seizures, developmental delay and spastic paraplegia through loss of AP-4 complex assembly.

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We report two siblings with infantile onset seizures, severe developmental delay and spastic paraplegia, in whom whole-genome sequencing revealed compound heterozygous mutations in the AP4S1 gene, encoding the σ subunit of the adaptor protein complex 4 (AP-4). The effect of the predicted

Paraplegia observed during maximal electroshock seizure test in rats.

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Paraplegia due to bilateral angioma of the paracentral area.

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The authors present a case of bilateral angioma of the paracentral area with paraplegia and generalized epileptic seizures. The onset of the disease was after a head injury.

A new locus (SPG47) maps to 1p13.2-1p12 in an Arabic family with complicated autosomal recessive hereditary spastic paraplegia and thin corpus callosum.

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The hereditary spastic paraplegias (HSP) are a heterogeneous group of genetic neurodegenerative disorders in which the main feature is progressive spasticity of the lower limbs due to pyramidal tract dysfunction. Clinically HSP are divided into two forms: a pure form that presents with progressive

AP4B1-associated hereditary spastic paraplegia: expansion of phenotypic spectrum related to homozygous p.Thr387fs variant.

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Biallelic mutations in the AP4B1 gene, encoding adaptor-related protein complex 4 beta-1 subunit, have been recognized as an important cause of a group of conditions leading to adaptor-related protein complex 4 (AP4)-associated hereditary spastic paraplegia (SPG47). We describe a homozygous, known

[Urinary infection in patients with the condition of paraplegia].

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The data were retrospectivelly analyzed conserning the frequency of uroinnfect in person with the paraplegia condition at the institute for physiatry and rehabilitation--the Center for paraplegia of the Clinical center of University in Sarajevo. The analysis was involved 71 (10%) of the patients

Novel variants in AP4B1 cause spastic tetraplegia, moderate psychomotor development delay and febrile seizures in a Chinese patient: a case report.

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The AP4B1 gene encodes a subunit of adaptor protein complex-4 (AP4), a component of intracellular transportation of proteins which plays important roles in neurons. Bi-allelic mutations in AP4B1 cause autosomal recessive spastic paraplegia-47(SPG47).Here we

Macrocephaly, distinct craniofacial appearance, and spastic paraplegia: a new case and expansion of the phenotype.

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An adult female patient is presented with macrocephaly, mental retardation, seizures, spastic paraplegia and distinctive craniofacial appearance. We believe she represents the fourth case of the Fryns macrocephaly, distinct craniofacial appearance and spastic paraplegia syndrome. Cardinal features

Genetics of hereditary spastic paraplegias.

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Hereditary spastic paraplegias (HSPs) are clinically and genetically highly heterogeneous. The key symptom of spastic paraparesis of lower limbs can be complicated by a variety of signs and symptoms including cognitive impairment, optic atrophy, cerebellar ataxia, peripheral nerve involvement, or

Mutation in the AP4B1 gene cause hereditary spastic paraplegia type 47 (SPG47) .

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We recently identified a new locus for spastic paraplegia type 47 (SPG47) in a consanguineous Arabic family with two affected siblings with progressive spastic paraparesis,intellectual disability, seizures, periventricular white matter changes and thin corpus callosum. Using exome sequencing, we now

A complex form of hereditary spastic paraplegia in three siblings due to somatic mosaicism for a novel SPAST mutation in the mother.

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Hereditary spastic paraplegias (HSPs) represent a clinically and genetically heterogeneous group of diseases. Major symptoms comprise progressive bilateral leg stiffness, spasticity at rest and diffuse muscle weakness. Complex forms are characterized by additional symptoms like dementia, cerebellar

Truncating ARL6IP1 variant as the genetic cause of fatal complicated hereditary spastic paraplegia.

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Mutations in ARL6IP1, which encodes a tetraspan membrane protein localized to the endoplasmic reticulum (ER), have been recently described in a large family with a complicated form of hereditary spastic paraplegia (HSP).We sought to expand the HSP phenotype

Familial spastic paraplegia with epilepsy.

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We report a family whose members have familial spastic paraplegia (FSP) associated with epilepsy. A man and his sister initially had primary generalized epilepsy with tonic-clonic seizures, but they have had no seizures for years. However, they developed spastic paresis of the lower extremities and

Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation.

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Bektaş G, Yeşil G, Yıldız EP, Aydınlı N, Çalışkan M, Özmen M. Hereditary spastic paraplegia type 35 caused by a novel FA2H mutation. Turk J Pediatr 2017; 59: 329-334. Hereditary spastic paraplegia type 35 (SPG35) is a rare disorder characterized by progressive spasticity. Mutations in the fatty acid

Conversion disorder presenting in a patient with an implantable morphine pump and an epidural abscess resulting in paraplegia.

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Conversion disorders are symptoms or deficits affecting voluntary motor or sensory function that suggest a neurological or medical condition. The psychological symptoms associated with the medical condition must be preceded by conflict or other stressors. We present an individual who developed

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