| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
|
|
|
|||||||
|
|||||||||
From the Departments of Neurology (Dr. Rosenberg) and Pharmacology (Dr. Shore), The University of Texas Health Science Center, Southwestern Medical School at Dallas, and the Department of Pediatrics, The University of California School of Medicine, San Diego (Dr. Nyhan, Ms. Bay).
An autosomal dominant striatonigral degeneration is present in a family of Portuguese ancestry numbering in excess of 329 persons in eight generations. The illness begins in the second, third, or fourth decade, and progresses for about 15 years with parkinsonian rigidity, spasticity, spastic dysarthria, and abnormalities of eye movement. Neuropathologic findings are severe neuronal loss and astrocytic gliosis in the corpus striatum and substantia nigra, with a moderate neuronal loss in the dentate nucleus of the cerebellum and nucleus ruber of the midbrain. This is a new genetic entity, distinct from other autosomal dominant neurologic disorders such as nigrospinodentatal degeneration, olivopontocerebellar degeneration, dystonia musculorum deformans, Machado's disease, and Huntington's disease.
Requests for reprints should be addressed to Dr. Rosenberg, Department of Neurology, The University of Texas Health Science Center, Southwestern Medical School, 5323 Harry Hines Blvd., Dallas, TX 75235.
This paper was presented in part at the twenty-eighth annual meeting of the American Academy of Neurology, April 1976, Toronto, Canada.
Received for publication February 11, 1976.
This article has been cited by other articles:
|
|
 |
|
  S. Martins, F. Calafell, C. Gaspar, V. C. N. Wong, I. Silveira, G. A. Nicholson, E. R. Brunt, L. Tranebjaerg, G. Stevanin, M. Hsieh, et al. Asian Origin for the Worldwide-Spread Mutational Event in Machado-Joseph Disease Arch Neurol, October 1, 2007; 64(10): 1502 - 1508. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 K. Lasek, R. Lencer, C. Gaser, J. Hagenah, U. Walter, A. Wolters, N. Kock, S. Steinlechner, M. Nagel, C. Zuhlke, et al. Morphological basis for the spectrum of clinical deficits in spinocerebellar ataxia 17 (SCA17) Brain, September 1, 2006; 129(9): 2341 - 2352. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
U. Wullner, M. Reimold, M. Abele, K. Burk, M. Minnerop, B.-M. Dohmen, H.-J. Machulla, R. Bares, and T. Klockgether Dopamine Transporter Positron Emission Tomography in Spinocerebellar Ataxias Type 1, 2, 3, and 6 Arch Neurol, August 1, 2005; 62(8): 1280 - 1285. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. Kawai, A. Takeda, Y. Abe, Y. Washimi, F. Tanaka, and G. Sobue Cognitive Impairments in Machado-Joseph Disease Arch Neurol, November 1, 2004; 61(11): 1757 - 1760. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 R Nandagopal and S G K Moorthy Dramatic levodopa responsiveness of dystonia in a sporadic case of spinocerebellar ataxia type 3 Postgrad. Med. J., June 1, 2004; 80(944): 363 - 365. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
T. Uchihara, C. Duyckaerts, K. Iwabuchi, M. Iwata, S. Yagishita, and J.-J. Hauw Was the Ataxia of Pierre Marie Machado-Joseph Disease?: A Reappraisal Based on the Last Autopsy Case From la Salpetriere Hospital Arch Neurol, May 1, 2004; 61(5): 784 - 790. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
U. Rub, D. Del Turco, K. Del Tredici, R. A. I. de Vos, E. R. Brunt, G. Reifenberger, C. Seifried, C. Schultz, G. Auburger, and H. Braak Thalamic involvement in a spinocerebellar ataxia type 2 (SCA2) and a spinocerebellar ataxia type 3 (SCA3) patient, and its clinical relevance Brain, October 1, 2003; 126(10): 2257 - 2272. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
A. Ishikawa, M. Yamada, K. Makino, I. Aida, J. Idezuka, T. Ikeuchi, Y. Soma, H. Takahashi, and S. Tsuji Dementia and Delirium in 4 Patients With Machado-Joseph Disease Arch Neurol, November 1, 2002; 59(11): 1804 - 1808. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
L. B. Jardim, M. L. Pereira, I. Silveira, A. Ferro, J. Sequeiros, and R. Giugliani Neurologic Findings in Machado-Joseph Disease: Relation With Disease Duration, Subtypes, and (CAG)n Arch Neurol, June 1, 2001; 58(6): 899 - 904. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
W. M. Landau, R. E. Schmidt, R. C. McGlennen, and S. G. Reich Hereditary Spastic Paraplegia and Hereditary Ataxia: Part 2: A Family Demonstrating Various Phenotypic Manifestations With the SCA3 Genotype Arch Neurol, May 1, 2000; 57(5): 733 - 739. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
M. Lima, P. Coutinho, A. Abade, J. Vasconcelos, and F. M. Mayer Causes of Death in Machado-Joseph Disease: A Case-Control Study in the Azores (Portugal) Arch Neurol, October 1, 1998; 55(10): 1341 - 1344. [Abstract] [Full Text] [PDF]
|
|
|
|
|
|
Y. Murata, S. Yamaguchi, H. Kawakami, Y. Imon, H. Maruyama, T. Sakai, T. Kazuta, T. Ohtake, M. Nishimura, T. Saida, et al. Characteristic Magnetic Resonance Imaging Findings in Machado-Joseph Disease Arch Neurol, January 1, 1998; 55(1): 33 - 37. [Abstract] [Full Text] [PDF]
|
|
|
|
 |
|
 V. M. Mathew, S. M. Dursun, and M. A. Reveley Successful treatment of urinary incontinence with clozapine in a schizophrenic patient J Psychopharmacol, January 1, 1996; 10(2): 166 - 169. [Abstract] [PDF]
|
|
|
|
 |
|
 S.H. Subramony Topical Review: Clinical Aspects of Hereditary Ataxias J Child Neurol, September 1, 1995; 10(5): 353 - 362. [Abstract] [PDF]
|
|
| HOME | HELP | FEEDBACK | SUBSCRIPTIONS | ARCHIVE | SEARCH | TABLE OF CONTENTS |
