共 16 条
Severe cerebral white matter involvement in a case of dentatorubropallidoluysian atrophy studied at autopsy
被引:15
作者:

Muñoz, E
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Inst Clin Malaties Sistema Nervios, Serv Neurol, Movement Disorders Unit, Barcelona, Spain Inst Clin Malaties Sistema Nervios, Serv Neurol, Movement Disorders Unit, Barcelona, Spain

Campdelacreu, J
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机构: Inst Clin Malaties Sistema Nervios, Serv Neurol, Movement Disorders Unit, Barcelona, Spain

Ferrer, I
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机构: Inst Clin Malaties Sistema Nervios, Serv Neurol, Movement Disorders Unit, Barcelona, Spain

Rey, MJ
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机构: Inst Clin Malaties Sistema Nervios, Serv Neurol, Movement Disorders Unit, Barcelona, Spain

Cardozo, A
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机构: Inst Clin Malaties Sistema Nervios, Serv Neurol, Movement Disorders Unit, Barcelona, Spain

Gómez, B
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机构: Inst Clin Malaties Sistema Nervios, Serv Neurol, Movement Disorders Unit, Barcelona, Spain

Tolosa, E
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机构: Inst Clin Malaties Sistema Nervios, Serv Neurol, Movement Disorders Unit, Barcelona, Spain
机构:
[1] Inst Clin Malaties Sistema Nervios, Serv Neurol, Movement Disorders Unit, Barcelona, Spain
[2] Inst Clin Malaties Sistema Nervios, Serv Neurol, Neurogenet Unit, Barcelona, Spain
[3] Ctr Diagnost Imatge, Barcelona, Spain
[4] Univ Barcelona, Hosp Clin & Univ, Inst Invest Biomed August Pi & Sunyer, Brain Bank, Barcelona, Spain
[5] Bellvitge Hosp, Inst Neuropathol, Pathol Serv, Barcelona, Spain
关键词:
D O I:
10.1001/archneur.61.6.946
中图分类号:
R74 [神经病学与精神病学];
学科分类号:
摘要:
Background: The pathophysiology of white matter involvement in dentatorubropallidoluysian atrophy (DRPLA) is controversial. Moreover, the clinical repercussions and evolution of these lesions have not been well documented. Objective: To describe a case of DRPLA with severe cerebellar white matter involvement. Design: Case report. Patient: A 62-year-old woman with DRPLA. Results: When the genetic diagnosis was made, the patient manifested severe ataxia, slight dysarthria, and subcortical cognitive impairment. Cranial magnetic resonance imaging showed atrophy of the cerebellum and brainstem and moderate high-intensity signal alterations in the periventricular cerebral white matter in T2-weighted sequences. In the following 5 years, she developed uncontrolled head movements associated with severe bruxism and tetraparesis, and became deeply demented. New magnetic resonance imaging showed severe diffuse cerebral white matter alterations in T2 sequences with only slight progression of brainstem and cerebellar atrophy. After her death at 67 years of age, the autopsy study showed diffuse myelin pallor, axonal preservation, and reactive astrogliosis in the cerebral white matter, with only mild atherosclerotic changes, and moderate neuronal loss in the cerebellum and brainstem. Conclusions: Leukoencephalopathy could be a prominent finding in some patients with DRPLA, explaining, at least in part, their clinical evolution. In our case, the disproportion between the severity of white matter damage and vascular changes does not support a cardinal role for ischemic mechanisms in leukoencephalopathy.
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页码:946 / 949
页数:4
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h-index: 0
机构: Niigata Univ, Brain Res Inst, Dept Neurol, Niigata 951, Japan

Hirota, K
论文数: 0 引用数: 0
h-index: 0
机构: Niigata Univ, Brain Res Inst, Dept Neurol, Niigata 951, Japan

Ishikawa, A
论文数: 0 引用数: 0
h-index: 0
机构: Niigata Univ, Brain Res Inst, Dept Neurol, Niigata 951, Japan

Tsuji, S
论文数: 0 引用数: 0
h-index: 0
机构: Niigata Univ, Brain Res Inst, Dept Neurol, Niigata 951, Japan
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JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY,
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Muñoz, E
论文数: 0 引用数: 0
h-index: 0
机构: Hosp Clin & Univ, Dept Neurol, Barcelona 08036, Spain

Milà, M
论文数: 0 引用数: 0
h-index: 0
机构: Hosp Clin & Univ, Dept Neurol, Barcelona 08036, Spain

Sánchez, A
论文数: 0 引用数: 0
h-index: 0
机构: Hosp Clin & Univ, Dept Neurol, Barcelona 08036, Spain

Latorre, P
论文数: 0 引用数: 0
h-index: 0
机构: Hosp Clin & Univ, Dept Neurol, Barcelona 08036, Spain

Ariza, A
论文数: 0 引用数: 0
h-index: 0
机构: Hosp Clin & Univ, Dept Neurol, Barcelona 08036, Spain

Codina, M
论文数: 0 引用数: 0
h-index: 0
机构: Hosp Clin & Univ, Dept Neurol, Barcelona 08036, Spain

Ballesta, F
论文数: 0 引用数: 0
h-index: 0
机构: Hosp Clin & Univ, Dept Neurol, Barcelona 08036, Spain

Tolosa, E
论文数: 0 引用数: 0
h-index: 0
机构: Hosp Clin & Univ, Dept Neurol, Barcelona 08036, Spain
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TADOKORO, K
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TANAKA, Y
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KIKUSHIMA, H
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FURUKAWA, T
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NIHEI, K
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NAGAFUCHI, S
论文数: 0 引用数: 0
h-index: 0
机构: NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN

YANAGISAWA, H
论文数: 0 引用数: 0
h-index: 0
机构: NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN

SATO, K
论文数: 0 引用数: 0
h-index: 0
机构: NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN

SHIRAYAMA, T
论文数: 0 引用数: 0
h-index: 0
机构: NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN

OHSAKI, E
论文数: 0 引用数: 0
h-index: 0
机构: NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN

BUNDO, M
论文数: 0 引用数: 0
h-index: 0
机构: NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN

TAKEDA, T
论文数: 0 引用数: 0
h-index: 0
机构: NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN

TADOKORO, K
论文数: 0 引用数: 0
h-index: 0
机构: NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN

KONDO, I
论文数: 0 引用数: 0
h-index: 0
机构: NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN

MURAYAMA, N
论文数: 0 引用数: 0
h-index: 0
机构: NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN

TANAKA, Y
论文数: 0 引用数: 0
h-index: 0
机构: NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN

KIKUSHIMA, H
论文数: 0 引用数: 0
h-index: 0
机构: NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN

UMINO, K
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h-index: 0
机构: NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN

KUROSAWA, H
论文数: 0 引用数: 0
h-index: 0
机构: NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN

FURUKAWA, T
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h-index: 0
机构: NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN

NIHEI, K
论文数: 0 引用数: 0
h-index: 0
机构: NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN

INOUE, T
论文数: 0 引用数: 0
h-index: 0
机构: NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN

SANO, A
论文数: 0 引用数: 0
h-index: 0
机构: NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN

KOMURE, O
论文数: 0 引用数: 0
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机构: NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN

TAKAHASHI, M
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机构: NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN

YOSHIZAWA, T
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KANAZAWA, I
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YAMADA, M
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机构: NATL CHILDRENS MED RES CTR,3-35-31 TAISHIDO,SETAGAYA KU,TOKYO 154,JAPAN