Letter response: Intra-familial phenotype variability in Late-Onset Tay-Sachs disease

被引：0

作者：

Riboldi, Giulietta Maria ^{[1
,2
]}

Lau, Heather ^{[2
,3
]}

机构：

[1] NYU, Marlene & Paolo Fresco Inst Parkinsons Dis & Move, Langone Hlth, New York, NY 10016 USA

[2] NYU, Dept Neurol, Langone Hlth, New York, NY 10016 USA

[3] Yale Univ, Dept Internal Med, New Haven, CT USA

来源：

TREMOR AND OTHER HYPERKINETIC MOVEMENTS | 2023年 / 13卷

关键词：

Late-Onset Tay-Sachs Disease; phenotype; family history; intra-familial; siblings; HEXOSAMINIDASE-A DEFICIENCY; CHRONIC GM2 GANGLIOSIDOSIS; SPINAL MUSCULAR-ATROPHY; CEREBELLAR-ATAXIA; WEAKNESS;

D O I：

10.5334/tohm.756

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

引用

页数：3

共 13 条

[1] CLINICAL AND GENETIC VARIATIONS IN THE SYNDROME OF ADULT GM2 GANGLIOSIDOSIS RESULTING FROM HEXOSAMINIDASE-A DEFICIENCY [J].

ARGOV, Z ;

NAVON, R .

ANNALS OF NEUROLOGY, 1984, 16 (01) :14-20

[2] Dysarthria and Stutter as Presenting Symptoms of Late-Onset Tay-Sachs Disease in Three Siblings [J].

Grim, Kristina K. ;

Phillips, Gregory D. ;

Renner, David R. .

MOVEMENT DISORDERS CLINICAL PRACTICE, 2015, 2 (03) :289-290

[3] ADULT ONSET SUPRANUCLEAR OPHTHALMOPLEGIA, CEREBELLAR-ATAXIA, AND NEUROGENIC PROXIMAL MUSCLE WEAKNESS IN A BROTHER AND SISTER - ANOTHER HEXOSAMINIDASE-A DEFICIENCY SYNDROME [J].

HARDING, AE ;

YOUNG, EP ;

SCHON, F .

JOURNAL OF NEUROLOGY NEUROSURGERY AND PSYCHIATRY, 1987, 50 (06) :687-690

[4] Progressive cerebellar ataxia, proximal neurogenic weakness and ocular motor disturbances: Hexosaminidase A deficiency with late clinical onset in four siblings [J].

Hund, E ;

Grau, A ;

Fogel, W ;

Forsting, M ;

Cantz, M ;

KustermannKuhn, B ;

Harzer, K ;

Navon, R ;

Goebel, HH ;

Meinck, HM .

JOURNAL OF THE NEUROLOGICAL SCIENCES, 1997, 145 (01) :25-31

[5] JUVENILE SPINAL MUSCULAR-ATROPHY - A NEW HEXOSAMINIDASE DEFICIENCY PHENOTYPE [J].

JOHNSON, WG ;

WIGGER, HJ ;

KARP, HR ;

GLAUBIGER, LM ;

ROWLAND, LP .

ANNALS OF NEUROLOGY, 1982, 11 (01) :11-16

[6] HEXOSAMINIDASE-A DEFICIENCY MANIFESTING AS SPINAL MUSCULAR-ATROPHY OF LATE ONSET [J].

KARNI, A ;

NAVON, R ;

SADEH, M .

ANNALS OF NEUROLOGY, 1988, 24 (03) :451-453

[7] Late-Onset Tay-Sachs Disease in an Irish Family [J].

Lefter, Stela ;

O'Mahony, Olivia ;

Sweeney, Brian ;

Ryan, Aisling M. .

MOVEMENT DISORDERS CLINICAL PRACTICE, 2021, 8 (01) :106-110

[8] HEXOSAMINIDASE-A DEFICIENCY IN ADULTS [J].

NAVON, R ;

ARGOV, Z ;

FRISCH, A .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1986, 24 (01) :179-196

[9] ADULT (CHRONIC) GM2 GANGLIOSIDOSIS - ATYPICAL SPINOCEREBELLAR DEGENERATION IN A JEWISH SIBSHIP [J].

RAPIN, I ;

SUZUKI, K ;

VALSAMIS, MP .

ARCHIVES OF NEUROLOGY, 1976, 33 (02) :120-130

[10] Diagnostic Tips from a Video Series and Literature Review of Patients with Late-Onset Tay-Sachs Disease [J].

Riboldi, Giulietta Maria ;

Lau, Heather .

TREMOR AND OTHER HYPERKINETIC MOVEMENTS, 2022, 12

← 1 2 →