Familial and sporadic chronic progressive degenerative parietal ataxia

Ryuta Morihara, Toru Yamashita, Kentaro Deguchi, Tomoko Kurata, Emi Nomura, Kota Sato, Yumiko Nakano, Yasuyuki Ohta, Nozomi Hishikawa, Takeshi Ikeuchi, Masataka Kitaguchi, Koji Abe

Research output: Contribution to journalArticle

Abstract

Background & objective: Parietal ataxia has been mainly reported as a consequence of acute ischemic stroke, while degenerative parietal ataxia has not been reported. Methods: We investigated clinical characteristics, neuroimaging data, and genetic analysis of patients with cerebellar ataxia plus parietal atrophy. Results: We identified seven patients, including five patients from two families, with chronic progressive cerebellar ataxia due to degenerative parietal atrophy but not stroke. Age at onset of ataxia was 57.6 ± 6.9 years. All patients showed chronic progressive cerebellar ataxia with severity of ataxic gait > limb ataxia > dysarthria. Patients showed no cognitive dysfunction, muscle weakness, or parkinsonism, and only two patients showed mild sensory disturbances. The seven patients showed lateralized limb ataxia with greater contralateral parietal lobe atrophy by magnetic resonance imaging, and hypoperfusion by single photon emission computed tomography, without any abnormal cerebellar pathology (i.e., crossed cerebellar diaschisis). Pathogenic mutations in the microtubule-associated protein tau gene were not found using two single nucleotide polymorphisms. Conclusions: This is the first description showing unique clinical features of familial and sporadic chronic progressive degenerative parietal ataxia.

Original languageEnglish
Pages (from-to)70-74
Number of pages5
JournalJournal of the Neurological Sciences
Volume387
DOIs
Publication statusPublished - Apr 15 2018

Fingerprint

Ataxia
Cerebellar Ataxia
Atrophy
Stroke
Dysarthria
Parietal Lobe
Microtubule-Associated Proteins
Muscle Weakness
Parkinsonian Disorders
Single-Photon Emission-Computed Tomography
Gait
Age of Onset
Neuroimaging
Single Nucleotide Polymorphism
Magnetic Resonance Imaging
Pathology
Mutation
Genes

Keywords

  • Crossed cerebellar diaschisis
  • MAPT
  • Parietal ataxia
  • Parietal lobe atrophy

ASJC Scopus subject areas

  • Neurology
  • Clinical Neurology

Cite this

Familial and sporadic chronic progressive degenerative parietal ataxia. / Morihara, Ryuta; Yamashita, Toru; Deguchi, Kentaro; Kurata, Tomoko; Nomura, Emi; Sato, Kota; Nakano, Yumiko; Ohta, Yasuyuki; Hishikawa, Nozomi; Ikeuchi, Takeshi; Kitaguchi, Masataka; Abe, Koji.

In: Journal of the Neurological Sciences, Vol. 387, 15.04.2018, p. 70-74.

Research output: Contribution to journalArticle

Morihara, Ryuta ; Yamashita, Toru ; Deguchi, Kentaro ; Kurata, Tomoko ; Nomura, Emi ; Sato, Kota ; Nakano, Yumiko ; Ohta, Yasuyuki ; Hishikawa, Nozomi ; Ikeuchi, Takeshi ; Kitaguchi, Masataka ; Abe, Koji. / Familial and sporadic chronic progressive degenerative parietal ataxia. In: Journal of the Neurological Sciences. 2018 ; Vol. 387. pp. 70-74.
@article{a96721117d1f43c7b2ba87499815ff60,
title = "Familial and sporadic chronic progressive degenerative parietal ataxia",
abstract = "Background & objective: Parietal ataxia has been mainly reported as a consequence of acute ischemic stroke, while degenerative parietal ataxia has not been reported. Methods: We investigated clinical characteristics, neuroimaging data, and genetic analysis of patients with cerebellar ataxia plus parietal atrophy. Results: We identified seven patients, including five patients from two families, with chronic progressive cerebellar ataxia due to degenerative parietal atrophy but not stroke. Age at onset of ataxia was 57.6 ± 6.9 years. All patients showed chronic progressive cerebellar ataxia with severity of ataxic gait > limb ataxia > dysarthria. Patients showed no cognitive dysfunction, muscle weakness, or parkinsonism, and only two patients showed mild sensory disturbances. The seven patients showed lateralized limb ataxia with greater contralateral parietal lobe atrophy by magnetic resonance imaging, and hypoperfusion by single photon emission computed tomography, without any abnormal cerebellar pathology (i.e., crossed cerebellar diaschisis). Pathogenic mutations in the microtubule-associated protein tau gene were not found using two single nucleotide polymorphisms. Conclusions: This is the first description showing unique clinical features of familial and sporadic chronic progressive degenerative parietal ataxia.",
keywords = "Crossed cerebellar diaschisis, MAPT, Parietal ataxia, Parietal lobe atrophy",
author = "Ryuta Morihara and Toru Yamashita and Kentaro Deguchi and Tomoko Kurata and Emi Nomura and Kota Sato and Yumiko Nakano and Yasuyuki Ohta and Nozomi Hishikawa and Takeshi Ikeuchi and Masataka Kitaguchi and Koji Abe",
year = "2018",
month = "4",
day = "15",
doi = "10.1016/j.jns.2018.01.031",
language = "English",
volume = "387",
pages = "70--74",
journal = "Journal of the Neurological Sciences",
issn = "0022-510X",
publisher = "Elsevier",

}

TY - JOUR

T1 - Familial and sporadic chronic progressive degenerative parietal ataxia

AU - Morihara, Ryuta

AU - Yamashita, Toru

AU - Deguchi, Kentaro

AU - Kurata, Tomoko

AU - Nomura, Emi

AU - Sato, Kota

AU - Nakano, Yumiko

AU - Ohta, Yasuyuki

AU - Hishikawa, Nozomi

AU - Ikeuchi, Takeshi

AU - Kitaguchi, Masataka

AU - Abe, Koji

PY - 2018/4/15

Y1 - 2018/4/15

N2 - Background & objective: Parietal ataxia has been mainly reported as a consequence of acute ischemic stroke, while degenerative parietal ataxia has not been reported. Methods: We investigated clinical characteristics, neuroimaging data, and genetic analysis of patients with cerebellar ataxia plus parietal atrophy. Results: We identified seven patients, including five patients from two families, with chronic progressive cerebellar ataxia due to degenerative parietal atrophy but not stroke. Age at onset of ataxia was 57.6 ± 6.9 years. All patients showed chronic progressive cerebellar ataxia with severity of ataxic gait > limb ataxia > dysarthria. Patients showed no cognitive dysfunction, muscle weakness, or parkinsonism, and only two patients showed mild sensory disturbances. The seven patients showed lateralized limb ataxia with greater contralateral parietal lobe atrophy by magnetic resonance imaging, and hypoperfusion by single photon emission computed tomography, without any abnormal cerebellar pathology (i.e., crossed cerebellar diaschisis). Pathogenic mutations in the microtubule-associated protein tau gene were not found using two single nucleotide polymorphisms. Conclusions: This is the first description showing unique clinical features of familial and sporadic chronic progressive degenerative parietal ataxia.

AB - Background & objective: Parietal ataxia has been mainly reported as a consequence of acute ischemic stroke, while degenerative parietal ataxia has not been reported. Methods: We investigated clinical characteristics, neuroimaging data, and genetic analysis of patients with cerebellar ataxia plus parietal atrophy. Results: We identified seven patients, including five patients from two families, with chronic progressive cerebellar ataxia due to degenerative parietal atrophy but not stroke. Age at onset of ataxia was 57.6 ± 6.9 years. All patients showed chronic progressive cerebellar ataxia with severity of ataxic gait > limb ataxia > dysarthria. Patients showed no cognitive dysfunction, muscle weakness, or parkinsonism, and only two patients showed mild sensory disturbances. The seven patients showed lateralized limb ataxia with greater contralateral parietal lobe atrophy by magnetic resonance imaging, and hypoperfusion by single photon emission computed tomography, without any abnormal cerebellar pathology (i.e., crossed cerebellar diaschisis). Pathogenic mutations in the microtubule-associated protein tau gene were not found using two single nucleotide polymorphisms. Conclusions: This is the first description showing unique clinical features of familial and sporadic chronic progressive degenerative parietal ataxia.

KW - Crossed cerebellar diaschisis

KW - MAPT

KW - Parietal ataxia

KW - Parietal lobe atrophy

UR - http://www.scopus.com/inward/record.url?scp=85041625759&partnerID=8YFLogxK

UR - http://www.scopus.com/inward/citedby.url?scp=85041625759&partnerID=8YFLogxK

U2 - 10.1016/j.jns.2018.01.031

DO - 10.1016/j.jns.2018.01.031

M3 - Article

C2 - 29571875

AN - SCOPUS:85041625759

VL - 387

SP - 70

EP - 74

JO - Journal of the Neurological Sciences

JF - Journal of the Neurological Sciences

SN - 0022-510X

ER -