Parkinsonism with a Hint of Huntington's from 29 CAG Repeats in HTT

被引：5

作者：

Sipila, J. O. T. ^{[1
,2
,3
]}

机构：

[1] Siun Sote North Karelia Cent Hosp, Dept Neurol, Joensuu 80120, Finland

[2] Turku Univ Hosp, Div Clin Neurosci, Turku 20521, Finland

[3] Univ Turku, Dept Neurol, FIN-20520 Turku, Finland

来源：

BRAIN SCIENCES | 2019年 / 9卷 / 10期

关键词：

clinical neurology; differential diagnosis; genetics; neurodegenerative disease; parkinsonism; movement disorders; neurophysiology; DISEASE; INTERMEDIATE; CHOREA; BRAIN;

D O I：

10.3390/brainsci9100245

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

Huntington's disease is caused by at least 36 cytosine-adenine-guanine (CAG) repeats in an HTT gene allele, but repeat tracts in the intermediate range (27-35 repeats) also display a subtle phenotype. This patient had a slightly elongated CAG repeat tract (29 repeats), a prominent family history of Parkinson's disease (PD), and a clinical phenotype mostly consistent with PD, but early dystonia and poor levodopa response. Neurophysiological test results were more consistent with Huntington's disease (HD) than PD. It is suggested that the intermediate allele modulated the clinical phenotype of PD in this patient.

引用

收藏

页数：5

相关论文

共 22 条

[1] CAG EXPANSION AFFECTS THE EXPRESSION OF MUTANT HUNTINGTIN IN THE HUNTINGTONS-DISEASE BRAIN [J].

ARONIN, N ;

CHASE, K ;

YOUNG, C ;

SAPP, E ;

SCHWARZ, C ;

MATTA, N ;

KORNREICH, R ;

LANDWEHRMEYER, B ;

BIRD, E ;

BEAL, MF ;

VONSATTEL, JP ;

SMITH, T ;

CARRAWAY, R ;

BOYCE, FM ;

YOUNG, AB ;

PENNEY, JB ;

DIFIGLIA, M .

NEURON, 1995, 15 (05) :1193-1201

[2] BRAIN-STEM REFLEXES AND BRAIN-STEM AUDITORY EVOKED-RESPONSES IN HUNTINGTONS-CHOREA [J].

BOLLEN, E ;

ARTS, RJHM ;

ROOS, RAC ;

VANDERVELDE, EA ;

BURUMA, OJS .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1986, 49 (03) :313-315

[3] Clinical manifestations of intermediate allele carriers in Huntington disease [J].

Cubo, Esther ;

Ramos-Arroyo, Maria A. ;

Martinez-Horta, Saul ;

Martinez-Descalls, Asuncion ;

Calvo, Sara ;

Gil-Polo, Cecilia .

NEUROLOGY, 2016, 87 (06) :571-578

[4] BLINK REFLEX IN HUNTINGTONS-CHOREA AND PARKINSONS-DISEASE [J].

ESTEBAN, A ;

GIMENEZROLDAN, S .

ACTA NEUROLOGICA SCANDINAVICA, 1975, 52 (02) :145-157

[5] Late onset Huntington's disease with 29 CAG repeat expansion [J].

Garcia-Ruiz, Pedro J. ;

Garcia-Caldentey, Juan ;

Feliz, Cici ;

del Val, Javier ;

Herranz, Antonio ;

Carlos Martinez-Castrillo, Juan .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2016, 363 :114-115

[6]

Ha Ainhi D, 2012, Tremor Other Hyperkinet Mov (N Y), V2, DOI 10.7916/D8FF3R2P

[7] Exploring the Correlates of Intermediate CAG Repeats in Huntington Disease [J].

Ha, Ainhi D. ;

Jankovic, Joseph .

POSTGRADUATE MEDICINE, 2011, 123 (05) :116-121

[8] Huntington disease in subjects from an Israeli Karaite community carrying alleles of intermediate and expanded CAG repeats in the HTT gene: Huntington disease or phenocopy? [J].

Herishanu, Yuval O. ;

Parvari, Ruti ;

Pollack, Yaakov ;

Shelef, Ilan ;

Marom, Batia ;

Martino, Tiziana ;

Cannella, Milena ;

Squitieri, Ferdinando .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 2009, 277 (1-2) :143-146

[9] The molecular epidemiology of Huntington disease is related to intermediate allele frequency and haplotype in the general population [J].

Kay, Chris ;

Collins, Jennifer A. ;

Wright, Galen E. B. ;

Baine, Fiona ;

Miedzybrodzka, Zosia ;

Aminkeng, Folefac ;

Semaka, Alicia J. ;

McDonald, Cassandra ;

Davidson, Mark ;

Madore, Steven J. ;

Gordon, Erynn S. ;

Gerry, Norman P. ;

Cornejo-Olivas, Mario ;

Squitieri, Ferdinando ;

Tishkoff, Sarah ;

Greenberg, Jacquie L. ;

Krause, Amanda ;

Hayden, Michael R. .

AMERICAN JOURNAL OF MEDICAL GENETICS PART B-NEUROPSYCHIATRIC GENETICS, 2018, 177 (03) :346-357

[10] Dramatic tissue-specific mutation length increases are an early molecular event in Huntington disease pathogenesis [J].

Kennedy, L ;

Evans, E ;

Chen, CM ;

Craven, L ;

Detloff, PJ ;

Ennis, M ;

Shelbourne, PF .

HUMAN MOLECULAR GENETICS, 2003, 12 (24) :3359-3367