合計: 15 |
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PMID (PMCID) | ||
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30687222 |
OTHER | |
Chorea-Acanthocytosis Presenting as Autosomal Recessive Epilepsy in a Family With a Novel VPS13A Mutation. | ||
Weber J, Frings L, Rijntjes M, Urbach H, Fischer J, Weiller C, Meyer PT, Klebe S. Front Neurol. 2018;9:1168. |
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Chorea-acanthocytosis (ChAc) is a rare, adult-onset disease usually characterized by, hence the name, a movement disorder and acanthocytosis in the blood. | ||
26431448 |
FEMALE | Adult |
Management of oromandibular dystonia on a chorea acanthocytosis: a brief review of the literature and a clinical case. | ||
Ortega MC, Skarmeta NP, Diaz YJ. Cranio. 2016;34(5):332-7. |
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Chorea acanthocytosis is an extremely rare neurodegenerative condition characterized by neuropsychiatric disturbances, movement disorders, neuropathy, seizures, and acanthocytosis. | ||
25733999 (4345195) |
OTHER | |
Globus pallidus interna deep brain stimulation for chorea-acanthocytosis. | ||
Lee JH, Cho WH, Cha SH, Kang DW. J Korean Neurosurg Soc. 2015;57(2):143-6. |
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Chorea-acanthocytosis (ChAc) is a rare hereditary disorder characterized by involuntary choreiform movements and erythrocytic acanthocytosis. | ||
23615095 |
MALE | Adult |
Successful deep brain stimulation surgery with intraoperative magnetic resonance imaging on a difficult neuroacanthocytosis case: case report. | ||
Lim TT, Fernandez HH, Cooper S, Wilson KM, Machado AG. Neurosurgery. 2013;73(1):E184-7; discussion E188. |
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Chorea acanthocytosis is a progressive hereditary neurodegenerative disorder characterized by hyperkinetic movements, seizures, and acanthocytosis in the absence of any lipid abnormality. | ||
18785241 |
MIXED_SAMPLE | Adult |
Chorea-acanthocytosis: report of two Brazilian cases. | ||
Rodrigues GR, Walker RH, Bader B, Danek A, Marques W Jr, Tumas V. Mov Disord. 2008;23(14):2090-3. |
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Chorea-acanthocytosis (ChAc) is a neurodegenerative disorder characterized by chorea, neuropsychiatric disturbances and acanthocytosis, caused by mutations of VPS13A. | ||
18942308 |
MALE | Adult |
Neuroacanthocytosis: a rare inherited movement disorder. | ||
Looi I, Eow GB, Norlia AM, Santhi DP. Med J Malaysia. 2008;63(2):157-8. |
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The chorea-acanthocytosis syndrome (CHAC) is a rare disorder beginning in late adolescent or adult life in association with acanthocytosis, a normal lipid profile and characterized by progressive neurological disease. | ||
16936394 |
MALE | Adult |
A case of choreoacanthocytosis with marked weight loss: impact of orolingual dyskinesia. | ||
Harirchian MH, Maghbooli M, Shirani A. Neurol India. 2006;54(3):296-7. |
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Choreoacanthocytosis (ChAc) is a rare autosomal recessive neurodegenerative disorder characterized by progressive onset of hyperkinetic movements and red cell acanthocytosis. | ||
8718661 |
MALE | Adult |
[Cardiac involvement in familial amytrophic chorea with acantocytosis: description of two new clinical cases]. | ||
Cavalli G, de Gregorio C, Nicosia S, Melluso C, Serra S. Ann Ital Med Int. 1995;10(4):249-52. |
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Familial amyotrophic chorea and acanthocytosis, also known as the Levine-Critchley syndrome, is a rare inherited disease characterized primarily by central nervous system involvement with progressive demyelinization and autosomic or dominant transmission. | ||
7931422 |
MALE | Middle Aged |
A family of McLeod syndrome, masquerading as chorea-acanthocytosis. | ||
Takashima H, Sakai T, Iwashita H, Matsuda Y, Tanaka K, Oda K, Okubo Y, Reid ME. J Neurol Sci. 1994;124(1):56-60. |
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A man, aged 52, is reported to show (1) adult onset, (2) progressive orofacial dyskinesia and choreic movements of the extremities, (3) tongue biting, (4) denervation of the peripheral nerves, (5) acanthocytosis, and (6) increased serum creatine kinase, which are characteristic of chorea-acanthocytosis. | ||
1419352 |
FEMALE | Adult |
[Studies on the erythrocyte membrane skeleton in a patient with chorea-acanthocytosis--theoretical speculation on the mechanism of neurological involvement]. | ||
Hosokawa T, Omoto K, Kanaseki T, Sugi Y, Wakamatsu H, Hamaguchi K. No To Shinkei. 1992;44(8):739-44. |
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Patients with chorea-acanthocytosis exhibit symptoms of self-biting, choreic movement, and acanthocytosis, but not dementia. | ||
2383405 |
FEMALE | Adult |
Membrane protein band 3 alteration associated with neurologic disease and tissue-reactive antibodies. | ||
Kay MM, Goodman J, Goodman S, Lawrence C. Exp Clin Immunogenet. 1990;7(3):181-99. |
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We studied band 3 structural/functional relationships in a family in which the proposita has a serious, progressive, genetic neurologic disorder with acanthocytosis (choreoacanthocytosis). | ||
2703759 |
MALE | Adult |
Red cell deformability and lipid composition in two forms of acanthocytosis: enrichment of acanthocytic populations by density gradient centrifugation. | ||
Clark MR, Aminoff MJ, Chiu DT, Kuypers FA, Friend DS. J Lab Clin Med. 1989;113(4):469-81. |
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One patient had typical chorea-acanthocytosis and the other had no clinical abnormalities associated with acanthocytosis. | ||
3804706 |
MIXED_SAMPLE | Adult |
Amyotrophic choreoacanthocytosis: is it really a very rare disease? | ||
Serra S, Arena A, Xerra A, Gugliotta AM, Galatioto S. Ital J Neurol Sci. 1986;7(5):521-4. |
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Amyotrophic choreoacanthocytosis (ACA) is a hereditary disease characterized by adult onset, hyperkinesias (with tongue and/or lip biting), neurogenic muscular atrophies, acanthocytosis and normal blood lipoprotein pattern. | ||
7288454 |
MIXED_SAMPLE | Adult |
Neurogenic muscular atrophy and low density of large myelinated fibres of sural nerve in chorea-acanthocytosis. | ||
Ohnishi A, Sato Y, Nagara H, Sakai T, Iwashita H, Kuroiwa Y, Nakamura T, Shida K. J Neurol Neurosurg Psychiatry. 1981;44(7):645-8. |
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In three cases of chorea-acanthocytosis (acanthocytosis and neurological disease, or familial degeneration of the basal ganglia with acanthocytosis), biopsies of short peroneal muscles and sural nerves were studied histologically. | ||
7288454 |
MIXED_SAMPLE | Adult |
Neurogenic muscular atrophy and low density of large myelinated fibres of sural nerve in chorea-acanthocytosis. | ||
Ohnishi A, Sato Y, Nagara H, Sakai T, Iwashita H, Kuroiwa Y, Nakamura T, Shida K. J Neurol Neurosurg Psychiatry. 1981;44(7):645-8. |
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In three cases of chorea-acanthocytosis (acanthocytosis and neurological disease, or familial degeneration of the basal ganglia with acanthocytosis), biopsies of short peroneal muscles and sural nerves were studied histologically. |