Elena Boder

Eye movements in ataxia-telangiectasia.

The spectrum of eye movement disorders in six patients with ataxia-telangiectasia at different stages of progression was assessed quantitatively by electrooculography. All patients demonstrated abnormalities of voluntary and involuntary saccades. The youngest and least involved patient had significantly incresed reaction times of voluntary saccades, but normal accuracy and velocity. The other patients demonstrated increased reaction times and marked hypometria of horizontal and vertical voluntary saccades. Saccade velocity remained normal. Vestibular and optokinetic fast components (involuntary saccades) had normal amplitude and velocity but the eyes deviated tonically in the direction of the slow component. We conclude that patients with ataxia-telangiectasia have a defect in the initiation of voluntary and involuntary saccades in the earliest stages. These findings are distinctly different from those in other familial cerebellar atrophy syndromes.

Ataxia-telangiectasia with a 32 year survival. A clinicopathological report.

The clinicalpathological findeins in a 32-year old woman with ataxia-telangiectasia are presented. This is the oldest patient with this disease to be studied throughly clinically and at outopsy. multiple small gliovascular malformation in the brain and spinal cord and telangiectasis of the liver were found. Other advanced lesions of atazia-telangiectasia re illustrated. The vascular malformtion of the central nervous system and liver are unique. The patient died of a malifnant lymphorpliferative disorder and had fice other malignant and benign neoplasms.

Progressive ataxia in childhood with particular reference to ataxia-telangiectasia.

IN THE DIFFERENTIAL diagnosis of ataxia in children, one must decide, from history and observation, whether the ataxia is acute and transitory, relatively fixed, or progressive in seventy. The acute transitory group is usually of toxic or infectious origin. If no etiology can be found, the condition may be diagnosed “acute cerebellar syndrome of childhood.”1.2 If the ataxia is relatively fixed, various prenatal, natal, or postnatal conditions, such as anoxia, trauma, vascular accident, or infection, must be considered and diagnoses such as “cerebellar hypoplasia” or “ataxic cerebral palsy” may be made. If the ataxia is progressive, the first consideration must be posterior fossa neoplasm. Also, structural abnormalities in the posterior fossa, foramen magnum, and cervical spine with concomitant neural defects may result in progressive ataxia.3 If these conditions are ruled out, the progressive ataxia is probably due to metabolic-degenerative disease. Ataxia and pathologic changes in the cerebellum have been noted in a wide variety of diffuse central nervous system disorders of progressive type.4.5 Such disease may involve primarily either gray or white matter. Examples of such disorders would include tuberous sclerosis6 and the cerebral scleroses such as Schilder’s disease and Pelizaeus-Merzbacher disease. The cerebral lipoidoses, including the familial amaurotic idiocy group and Alper’s degeneration of the cerebral gray matter, could also be included here.7.8 It is rare, however, that ataxia remains as a primary and isolated symptom in these diseases, and widespread neurologic deficit soon makes itself apparent. Further considerations include the system degenerations involving the cerebellum and its afferent and efferent tracts. These disorders are often heredofamilial. The classic example of such a disorder in children is, of course, Friedreichs ataxia.0 There are numerous variants and formes frustes of this disease, but it is in general a well delineated clinical entity and easily recognized by its classic features: hereditary transmission, onset between 6 and 18 years, ataxia of trunk and intention, kyphoscoliosis and typical foot deformity, posterolateral column signs, diminished or absent tendon reflexes, hypotonia, occasional optic atrophy and heart disease, and definite, although usually slow, progression.Q-12 If the child does not fit into the Friedreich group, there may be difficulty in making a diagnosis other than the unsatisfactory one of “progressive ataxia of childhood.” It is best, then, to describe the patient as exhaustively as possible according to some precise scheme such as that presented by Lichtenstein.13 Batten14 in 1905 stressed the difficulty of diagnosis in cases “in which a child has been healthy until a certain age, and then has gradually developed ataxia; cases in some points resembling Friedreich‘s disease, but differing from the classical picture of that disease.” The present study was undertaken to ascertain what clinical entities other than Friedreich’s ataxia characteristically give rise to chronic progressive ataxia in childhood.