Literature DB >> 718486

Familial and acquired paroxysmal dyskinesias. A proposed classification with delineation of clinical features.

D J Goodenough, R G Fariello, B L Annis, R W Chun.   

Abstract

On a clinical basis the paroxysmal dyskinesias can be classified into two distinct categories--familial and acquired. The former begins in childhood and the dyskinesia may or may not be induced by sudden movements (kinesigenic or nonkinesigenic forms). In the familial kinesigenic form, the movements are brief, usually occur daily, and respond readily to anticonvulsants. This form has an autosomal dominant or recessive mode of inheritance. In the familial nonkinesigenic form, the movements are of longer duration, occur less frequently, and rarely respond to anticonvulsants. This form has a clear autosomal dominant mode of inheritance. The etiology is obscure. The acquired form of paroxysmal dyskinesia has a later onset and is an expression of an underlying neurological or metabolic disease. Some cases of acquired paroxysmal dyskinesia are manifestations of unusual forms of epilepsy. In these cases the differential diagnosis may be extremely difficult and must be based on EEG findings during an ictal episode.

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Year:  1978        PMID: 718486     DOI: 10.1001/archneur.1978.00500360051010

Source DB:  PubMed          Journal:  Arch Neurol        ISSN: 0003-9942


  19 in total

1.  Diagnosis and treatment of paroxysmal dyskinesias revisited.

Authors:  Iris Unterberger; Eugen Trinka
Journal:  Ther Adv Neurol Disord       Date:  2008-09       Impact factor: 6.570

2.  A gene for familial paroxysmal dyskinesia (FPD1) maps to chromosome 2q.

Authors:  G T Fouad; S Servidei; S Durcan; E Bertini; L J Ptácek
Journal:  Am J Hum Genet       Date:  1996-07       Impact factor: 11.025

Review 3.  The genetics of primary torsion dystonia.

Authors:  U Müller; K G Kupke
Journal:  Hum Genet       Date:  1990-01       Impact factor: 4.132

4.  Paroxysmal kinesigenic choreoathetosis locus maps to chromosome 16p11.2-q12.1.

Authors:  H a Tomita; S Nagamitsu; K Wakui; Y Fukushima; K Yamada; M Sadamatsu; A Masui; T Konishi; T Matsuishi; M Aihara; K Shimizu; K Hashimoto; M Mineta; M Matsushima; T Tsujita; M Saito; H Tanaka; S Tsuji; T Takagi; Y Nakamura; S Nanko; N Kato; Y Nakane; N Niikawa
Journal:  Am J Hum Genet       Date:  1999-12       Impact factor: 11.025

5.  Exome sequencing identifies truncating mutations in PRRT2 that cause paroxysmal kinesigenic dyskinesia.

Authors:  Wan-Jin Chen; Yu Lin; Zhi-Qi Xiong; Wei Wei; Wang Ni; Guo-He Tan; Shun-Ling Guo; Jin He; Ya-Fang Chen; Qi-Jie Zhang; Hong-Fu Li; Yi Lin; Shen-Xing Murong; Jianfeng Xu; Ning Wang; Zhi-Ying Wu
Journal:  Nat Genet       Date:  2011-11-20       Impact factor: 38.330

6.  Focal paroxysmal kinesigenic choreoathetosis.

Authors:  G Plant
Journal:  J Neurol Neurosurg Psychiatry       Date:  1983-04       Impact factor: 10.154

Review 7.  PRRT2-related disorders: further PKD and ICCA cases and review of the literature.

Authors:  Felicitas Becker; Julian Schubert; Pasquale Striano; Anna-Kaisa Anttonen; Elina Liukkonen; Eija Gaily; Christian Gerloff; Stephan Müller; Nicole Heußinger; Christoph Kellinghaus; Angela Robbiano; Anne Polvi; Simone Zittel; Tim J von Oertzen; Kevin Rostasy; Ludger Schöls; Tom Warner; Alexander Münchau; Anna-Elina Lehesjoki; Federico Zara; Holger Lerche; Yvonne G Weber
Journal:  J Neurol       Date:  2013-01-09       Impact factor: 4.849

8.  Altered intrinsic brain activity in patients with paroxysmal kinesigenic dyskinesia by PRRT2 mutation: altered brain activity by PRRT2 mutation.

Authors:  ChunYan Luo; Yongping Chen; Wei Song; Qin Chen; QiYong Gong; Hui-Fang Shang
Journal:  Neurol Sci       Date:  2013-03-27       Impact factor: 3.307

9.  Clinical manifestations in paroxysmal kinesigenic dyskinesia patients with proline-rich transmembrane protein 2 gene mutation.

Authors:  Jinyoung Youn; Ji Sun Kim; Munhyang Lee; Jeehun Lee; Hakjae Roh; Chang-Seok Ki; Jin Whan Choa
Journal:  J Clin Neurol       Date:  2014-01-06       Impact factor: 3.077

10.  Paroxysmal kinesigenic choreoathetosis.

Authors:  S Harel; U Yurgenson; M Kutai
Journal:  Childs Nerv Syst       Date:  1987       Impact factor: 1.475

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