 |
|
Recessive Ataxia With Ocular Apraxia
Review of 22 Portuguese Patients
Clara Barbot, MD;
Paula Coutinho, MD, PhD;
Rui Chorão, MD;
Carla Ferreira, MD;
José Barros, MD;
Isabel Fineza, MD;
Karin Dias, MD;
José P. Monteiro, MD, PhD;
António Guimarães, MD;
Pedro Mendonça, BSc;
Maria do Céu Moreira, MSc;
Jorge Sequeiros, MD, PhD
Arch Neurol. 2001;58:201-205.
Background The recessive ataxias are a heterogeneous group of neurodegenerative
disorders characterized by cerebellar ataxia associated with a number of different
neurologic, ophthalmologic, or general signs. They are often difficult to
classify in clinical terms, except for Friedreich ataxia, ataxia-telangiectasia,
and a relatively small group of rare conditions for which the molecular basis
has already been defined.
Objectives To study the clinical presentation and to define diagnostic criteria
in a group of Portuguese patients with ataxia and ocular apraxia, an autosomal
recessive form without the essential clinical and laboratory features of ataxia-telangiectasia.
Patients and Methods We reviewed 22 patients in 11 kindreds, identified through a systematic
survey of hereditary ataxias being conducted in Portugal.
Results Age at onset ranged from 1 to 15 years, with a mean of 4.7 years. The
duration of symptoms at the time of last examination varied from 5 to 58 years.
All patients presented with progressive cerebellar ataxia, the characteristic
ocular apraxia, and a peripheral neuropathy. Associated neurologic signs included
dystonia, scoliosis, and pes cavus. Magnetic resonance imaging was performed
in 16 patients, all of whom showed cerebellar atrophy.
Conclusions Ataxia with ocular apraxia may be more frequent than postulated before,
and may be identified clinically using the following criteria: (1) autosomal
recessive transmission; (2) early onset (for most patients in early childhood);
(3) combination of cerebellar ataxia, ocular apraxia, and early areflexia,
with later appearance of the full picture of peripheral neuropathy; (4) absence
of mental retardation, telangiectasia, and immunodeficiency; and (5) the possibility
of a long survival, although with severe motor handicap.
From the Department of Pediatric Neurology, Hospital Maria Pia (Dr
Barbot), Department of Neurology, Hospital Santo António, (Drs Ferreira,
Barros, and Monteiro), the Neuropathology Unit, Hospital Santo António
(Dr Guimarães), and UnIGENe, Instituto de Biologia Molecular e Celular,
University of Porto (Drs Barbot, Coutinho, and Sequeiros; Mr Mendonça;
and Ms Moreira), Porto; the Departments of Neurology, Hospital de São
Sebastião, Santa Maria da Feira (Dr Coutinho), and Hospital de São
Pedro, Vila Real (Dr Chorão); and Departments of Pediatric Neurology,
Hospital Pediátrico, Coimbra (Dr Fineza), and Hospital de D Estefânia,
Lisboa (Dr Dias), Portugal.
Corresponding author and reprints: Paula Coutinho, MD, PhD, Division
of Neurology, Department of Medicine, Hospital de São Sebastião,
4520-211 Santa Maria da Feira, Portugal (e-mail: pcoutinho{at}hospitalfeira.min-saude.pt).
RELATED ARTICLES
Recessive Ataxia With Ocular Motor Apraxia
David M. Dawson
Arch Neurol. 2001;58(2):173-174.
EXTRACT
| FULL TEXT
Archives of Neurology Reader's Choice: Continuing Medical Education
Arch Neurol. 2001;58(2):320-322.
FULL TEXT
THIS ARTICLE HAS BEEN CITED BY OTHER ARTICLES
|
Ataxia With Oculomotor Apraxia Type 1 (AOA1): Clinical and Neuropsychological Features in 2 New Patients and Differential Diagnosis
D'Arrigo et al.
J Child Neurol 2008;23:895-900.
ABSTRACT
Aprataxin, causative gene product for EAOH/AOA1, repairs DNA single-strand breaks with damaged 3'-phosphate and 3'-phosphoglycolate ends
Takahashi et al.
Nucleic Acids Res 2007;35:3797-3809.
ABSTRACT
| FULL TEXT
Familial Cognitive Impairment With Ataxia With Oculomotor Apraxia
Mahajnah et al.
J Child Neurol 2005;20:523-525.
ABSTRACT
Familial Cognitive Impairment With Ataxia With Oculomotor Apraxia
Mahajnah et al.
J Child Neurol 2005;20:523-525.
ABSTRACT
Ataxia with oculomotor apraxia type 1 in Southern Italy: Late onset and variable phenotype
Criscuolo et al.
Neurology 2004;63:2173-2175.
ABSTRACT
| FULL TEXT
Aprataxin gene mutations in Tunisian families
Amouri et al.
Neurology 2004;63:928-929.
ABSTRACT
| FULL TEXT
Frequency and phenotypic spectrum of ataxia with oculomotor apraxia 2: a clinical and genetic study in 18 patients
Le Ber et al.
Brain 2004;127:759-767.
ABSTRACT
| FULL TEXT
Cerebellar ataxia with oculomotor apraxia type 1: clinical and genetic studies
Le Ber et al.
Brain 2003;126:2761-2772.
ABSTRACT
| FULL TEXT
Phenotypic variability of aprataxin gene mutations
Tranchant et al.
Neurology 2003;60:868-870.
ABSTRACT
| FULL TEXT
Early-onset ataxia with ocular motor apraxia and hypoalbuminemia: The aprataxin gene mutations
Shimazaki et al.
Neurology 2002;59:590-595.
ABSTRACT
| FULL TEXT
The aetiology of sporadic adult-onset ataxia
Abele et al.
Brain 2002;125:961-968.
ABSTRACT
| FULL TEXT
Ocular Apraxia in Recessive Ataxia
Koeppen et al.
Arch Neurol 2002;59:874-874.
FULL TEXT
Recessive Ataxia With Ocular Motor Apraxia
Dawson
Arch Neurol 2001;58:173-174.
FULL TEXT
|
