RESEARCH: The aetiology of sporadic adult-onset ataxia.

[Guest guest]

Brain 2002 May;125(Pt 5):961-968

The aetiology of sporadic adult-onset ataxia.

Abele M, Burk K, Schols L, Schwartz S, Besenthal I, Dichgans J, Zuhlke C,

Riess

O, Klockgether T.

Department of Neurology and Department of Pediatrics, University of Bonn,

Department of Neurology and Department of Laboratory Medicine, University of

Tubingen, Department of Neurology, St. f Hospital, Bochum, Institute of

Human Genetics, University of Lubeck and Department of Medical Genetics,

University of Rostock, Germany. Correspondence: T. Klockgether, Department

of

Neurology, University of Bonn, Sigmund-Freud-Strasse 25, D-53105 Bonn,

Germany

E-mail: klockgether@...

The nosology and aetiology of sporadic adult-onset ataxia are poorly

understood.

The aim of the present study was to answer the following questions: (i) How

many

sporadic ataxia patients have a genetic cause? (ii) How many sporadic ataxia

patients suffer from multiple system atrophy (MSA)? (iii) Is there a

specific

association between sporadic ataxia and serum anti-glutamic acid

decarboxylase

(GAD) or antigliadin antibodies? and (iv) What are the clinical features of

patients with unexplained sporadic ataxia? The study was performed in 112

patients who met the following inclusion criteria: (i) progressive ataxia;

(ii)

onset after 20 years; (iii) informative and negative family history (no

similar

disorders in first- and second-degree relatives; parents older than 50

years);

and (iv) no established symptomatic cause. Thirty-two patients (29%) met the

clinical criteria of possible (7%) or probable (22%) MSA. The Friedreich's

ataxia mutation was found in five patients (4%), the spinocerebellar ataxia

(SCA) 2 mutation in one (1%), the SCA3 mutation in two (2%) and the SCA6

mutation in seven (6%). The disease remained unexplained in 65 patients

(58%).

We did not detect anti-GAD antibodies in any of our patients. Antigliadin

antibodies were present in 14 patients, 10 patients with unexplained ataxia

(15%) and 4 patients with an established diagnosis (9%). Patients with

unexplained sporadic ataxia had a median disease onset of 56.0 years.

Decreased

vibration sense (62%), decreased or absent ankle reflexes (40%), increased

ankle

reflexes (39%), dysphagia (38%) and extensor plantar responses and/or

spasticity

(34%) were the most frequent extracerebellar symptoms. Compared with MSA,

disease progression was significantly slower.

PMID: 11960886 [PubMed - as supplied by publisher]