Literature DB >> 14639680

Pure akinesia: an unusual phenotype of Hallervorden-Spatz syndrome.

José L Molinuevo1, María J Martí, Rafael Blesa, Eduardo Tolosa.   

Abstract

Two siblings were seen in our outpatient movement disorders clinic with an indolent clinical picture of a pure akinesia syndrome. Magnetic resonance showed the typical "eye of the tiger" sign, and genetic screening disclosed that both siblings were compound heterozygotes with two missense mutations in the PANK2 gene 734A-->G and 1172T-->C. This case report highlights the phenotypic diversity of Hallervorden Spatz syndrome and the need for further investigation of adult-onset pure akinesia syndromes.

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Year:  2003        PMID: 14639680     DOI: 10.1002/mds.10520

Source DB:  PubMed          Journal:  Mov Disord        ISSN: 0885-3185            Impact factor:   10.338


  8 in total

Review 1.  Gait and dementia: moving beyond the notion of gait apraxia.

Authors:  R J Elble
Journal:  J Neural Transm (Vienna)       Date:  2007-05-18       Impact factor: 3.575

Review 2.  Pantothenate kinase-associated neurodegeneration (PKAN) and PLA2G6-associated neurodegeneration (PLAN): review of two major neurodegeneration with brain iron accumulation (NBIA) phenotypes.

Authors:  Manju A Kurian; Susan J Hayflick
Journal:  Int Rev Neurobiol       Date:  2013       Impact factor: 3.230

3.  A novel 3-bp deletion in the PANK2 gene of Dutch patients with pantothenate kinase-associated neurodegeneration: evidence for a founder effect.

Authors:  P Rump; H H Lemmink; C C Verschuuren-Bemelmans; P M Grootscholten; J M Fock; S J Hayflick; S K Westaway; Y J Vos; A J van Essen
Journal:  Neurogenetics       Date:  2005-10-21       Impact factor: 2.660

4.  The "eye of the tiger" sign in pure akinesia with gait freezing.

Authors:  Roberto Erro; Marianna Amboni; Carmine Vitale; Katia Longo; Mariangela Rocco; Carmela Russo; Sabina Pappatà; Arturo Brunetti; Paolo Barone
Journal:  Neurol Sci       Date:  2011-05-05       Impact factor: 3.307

5.  Intellectual and adaptive behaviour functioning in pantothenate kinase-associated neurodegeneration.

Authors:  K Freeman; A Gregory; A Turner; P Blasco; P Hogarth; S Hayflick
Journal:  J Intellect Disabil Res       Date:  2007-06

6.  The globus pallidus sends reward-related signals to the lateral habenula.

Authors:  Simon Hong; Okihide Hikosaka
Journal:  Neuron       Date:  2008-11-26       Impact factor: 17.173

7.  Comparison of regional brain atrophy and cognitive impairment between pure akinesia with gait freezing and Richardson's syndrome.

Authors:  Jin Yong Hong; Hyuk Jin Yun; Mun Kyung Sunwoo; Jee Hyun Ham; Jong-Min Lee; Young H Sohn; Phil Hyu Lee
Journal:  Front Aging Neurosci       Date:  2015-09-29       Impact factor: 5.750

8.  Pure akinesia with gait freezing: a clinicopathologic study.

Authors:  Ahmad Elkouzi; Esther N Bit-Ivan; Rodger J Elble
Journal:  J Clin Mov Disord       Date:  2017-10-17
  8 in total

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