neuroacanthocytosis/seizures

Kiungo kimehifadhiwa kwenye clipboard

NakalaMajaribio ya klinikiHati miliki

Chagua aina ya aina

Ukurasa 1 kutoka 48 matokeo

[Early Diagnosis of Chorea-Acanthocytosis: Orofacial Dyskinesia, Epileptic Seizures, and HyperCKemia].

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Chorea-acanthocytosis is an uncommon neurodegenerative disorder. Early diagnosis is often challenging. The triad of orofacial dyskinesia, epileptic seizures, and hyperCKemia should alert neurologists of a neuroacanthocytosis syndrome. The diagnosis can be confirmed by detection of chorein deficiency

Focal seizures originating from the left temporal lobe in a case with chorea-acanthocytosis.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Neuroacanthocytosis is a group of disorders, clinically characterized with movement disorders, self-mutilation and seizures. There is little information in the literature regarding the clinical and EEG findings of the accompanying seizures in this neurodegenerative disorder. A 46-year-old man who

Seizures as presenting and prominent symptom in chorea-acanthocytosis with c.2343del VPS13A gene mutation.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

OBJECTIVE The aim of the study was to characterize the clinical features of nine patients in three families with chorea-acanthocytosis (ChAc) sharing the same rare c.2343del mutation in the VPS13A gene. METHODS Genetic test results, clinical description, magnetic resonance imaging (MRI), and

Neuropathological findings in chorea-acanthocytosis: new insights into mechanisms underlying parkinsonism and seizures.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Chorea-acanthocytosis presenting as motor neuron disease.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

BACKGROUND Chorea-acanthocytosis (ChAc) is a rare autosomal recessive disease characterized by involuntary movements, seizures, cognitive changes, myopathy, and axonal neuropathy. METHODS We report a patient who presented with gait impairment and dysarthria. Clinical and neurophysiological

Chorea-acanthocytosis: Homozygous 1-kb deletion in VPS13A detected by whole-genome sequencing.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

UNASSIGNED To determine a molecular diagnosis for a large multigenerational family of South Asian ancestry with seizures, hyperactivity, and episodes of tongue biting. UNASSIGNED Two affected individuals from the family were analyzed by whole-genome sequencing on the Illumina HiSeq X platform, and

Cooccurrence of Chorea-Acanthocytosis and Mesial Temporal Sclerosis: A Possible Role of Caudate Nucleus.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Chorea-acanthocytosis (ChAc) is an orphan disease, caused by mutations on chromosome 9. Epileptic seizures of mesial temporal origin can be a predominant symptom. We report on a 29-year-old woman with ChAc and bilateral MTS. Previously, few patients with coexisting ChAc and MTS were reported. The

Choreoacanthocytosis in a Chinese patient--a case report.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

A 50-year old Chinese woman with the rare neurological disorder of Choreoacanthocytosis is described. Her illness is characterised by seizures, buccolingual dyskinesia, choreiform movements, arreflexia and mild sensorimotor polyneuropathy. Acanthocytes were present in her peripheral blood in large

Neuroacanthocytosis--the variability of presenting symptoms in two siblings.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Neuroacanthocytosis is a progressive multisystem disease with a wide range of symptoms. The involuntary movements mainly include chorea and orofaciolingual dyskinesias. The descriptive name of the disease refers to the presence of abnormal erythrocytes in peripheral blood. Two siblings are

Chorea-Acanthocytosis in a Chinese Family With a Pseudo-Dominant Inheritance Mode.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Chorea-acanthocytosis (ChAc) is a rare neurodegenerative movement disorder with variable clinical features, including movement disorders, cognitive decline, myopathy, neuropathy, behavioral changes, seizures and acanthocytosis. The majority of ChAc patients display an autosomal recessive mode of

Bilateral temporal lobe epilepsy confirmed with intracranial EEG in chorea-acanthocytosis.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Chorea-acanthocytosis (ChAc) is an uncommon basal ganglia disorder, in which the movement disorder element may be obscured by the predominance of seizures. We report a pertinent case of a patient who had undergone extensive evaluation for epilepsy, including intracranial EEG before finally the

[Epilepsy revealing chorea-acanthocytosis: about a case].

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Chorea-acanthocytosis (ChAc) is an extremely rare autosomal recessive disorder caused by mutations in the VSP13A gene on chromosome 9q21. It is characterized by neurological symptoms, psychiatric manifestations and multisystem involvement resulting in myopathy, axonal neuropathy and presence of

[A case of chorea-acanthocytosis onset with at age 86].

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

An 86-year-old woman was admitted to our hospital for orobuccolingual dyskinesia. She did not take any medication. Her relatives had no similar symptoms nor consanguineous marriage. Although orobuccolingual dyskinesia was improved by administration of haloperidol for a while, orobuccolingual

Psychiatric symptoms in a woman with chorea-acanthocytosis.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Chorea-acanthocytosis is an uncommon neurodegenerative disorder, usually with a low rate of progression. It is characterized by Huntington disease-like involuntary movements, cognitive decline, behavioral changes, seizures and polyneuropathy. Chorea-acanthocytosis belongs to the group of

Chorea-acanthocytosis: clinical and genetic findings in three families from the Arabian peninsula.

Watumiaji waliosajiliwa tu ndio wanaweza kutafsiri nakala

Ingia / Ingia

Chorea-acanthocytosis is a rare autosomal recessive disorder. Its characteristics are orofacial dyskinesia, hyporeflexia, seizures, aberrant behavior, atrophy of the caudate and putamen, and acanthocytes in the blood with a normal level of lipoproteins. We describe three families with

Iliyotangulia
1
2
3
4
Ifuatayo

Jiunge na ukurasa
wetu wa facebook

Herbal & Natural Medicine

Hifadhidata kamili ya mimea ya dawa inayoungwa mkono na sayansi

Inafanya kazi katika lugha 55
Uponyaji wa mitishamba unaungwa mkono na sayansi
Kutambua mimea kwa picha
Ramani ya GPS inayoshirikiana
Soma machapisho ya kisayansi yanayohusiana na utafutaji wako
Tafuta mimea ya dawa na athari zao
Panga maslahi yako na fanya tarehe ya utafiti wa habari, majaribio ya kliniki na ruhusu

Andika dalili au ugonjwa na usome juu ya mimea ambayo inaweza kusaidia, chapa mimea na uone magonjwa na dalili ambazo hutumiwa dhidi yake.
* Habari zote zinategemea utafiti wa kisayansi uliochapishwa