✦ LIBER ✦

Intrafamilial variability in Machado-Joseph disease

✍ Scribed by Dr. S. H. Subramony; R. D. Currier

Publisher: John Wiley and Sons
Year: 1996
Tongue: English
Weight: 241 KB
Volume: 11
Category: Article
ISSN: 0885-3185
DOI: 10.1002/mds.870110625

No coin nor oath required. For personal study only.

✦ Synopsis

Abstract

Dominantly inherited ataxias resulting from different gene mutations are difficult to distinguish based on clinical phenotypes. We believe the phenotypic variability within families can be a clue to clinical diagnosis. We illustrate the range of phenotypes extending from levodopa‐responsive extrapyramidal disease to more purely ataxic syndromes seen in two families with molecularly proven Machado‐Joseph disease.

📜 SIMILAR VOLUMES

Eyelid dystonia in Machado-Joseph Diseas

Eyelid dystonia in Machado-Joseph Disease

✍ Francisco Cardoso; José Teotonio de Oliveira; Marzia Puccioni-Sohler; Alexandre 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 475 KB

Cognitive deficits in Machado-Josephs di

Cognitive deficits in Machado-Josephs disease

✍ Dr P. Maruff; P. Tyler; T. Burt; B. Currie; C. Burns; J. Currie 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 677 KB

Intrafamilial variability in lysosomal s

Intrafamilial variability in lysosomal storage diseases

✍ Zlotogora, Joël ;Opitz, John M. ;Reynolds, James F. 📂 Article 📅 1987 🏛 John Wiley and Sons 🌐 English ⚖ 423 KB

Pathological crying in patients with Mac

Pathological crying in patients with Machado-Joseph disease

✍ João Guimarães; Paulo Bugalho; Paula Coutinho 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 37 KB

Executive and emotional dysfunction in M

Executive and emotional dysfunction in Machado-Joseph disease

✍ Tricia M. Zawacki; Janet Grace; Joseph H. Friedman; Lewis Sudarsky 📂 Article 📅 2002 🏛 John Wiley and Sons 🌐 English ⚖ 80 KB

## Abstract Machado‐Joseph disease (MJD) is an autosomal dominant spinocerebellar ataxia. Few studies have examined the neuropsychological and neurobehavioral profiles of patients with MJD. In this study, six individuals with MJD were given a battery of neuropsychological tests. Relative impairment

Progression of ataxia in patients with M

Progression of ataxia in patients with Machado-Joseph disease

✍ Marcondes C. França Jr; Anelyssa D'Abreu; Anamarli Nucci; Fernando Cendes; Iscia 📂 Article 📅 2009 🏛 John Wiley and Sons 🌐 English ⚖ 289 KB

## Abstract Although ataxia is the most distressing manifestation of Machado‐Joseph disease (MJD), little is known about its natural history. Therefore, we prospectively followed a cohort of patients with MJD for 13 months to characterize the progression of ataxia and identify its contributory fact