How far do patients with sensory ataxia benefit from so-called “proprioceptive rehabilitation”?

A rehabilitation program including foot sensory stimulation, balance and gait training with limited vision was performed in 24 patients with clinically defined sensory ataxia. There were 15 patients with bilateral somatosensory loss related to chronic neuropathy and nine patients with unilateral loss-related to multiple sclerosis. After training, balance control assessed using the Berg Balance Test improved similarly in both groups, and Romberg's sign disappeared in some patients, suggesting an improvement in dynamic balance and in the proprioceptive contribution. Conversely, balance assessed on a static force platform remained similar in the open-eyes condition and improved in the closed-eyes condition only in patients with unilateral sensory loss. These results show that ataxic patients can improve their balance with better results in dynamic conditions and that the relative contribution of proprioceptive and visual inputs may depend on the extent of somatosensory loss.     

An unusual cause of adult onset cerebellar ataxia with hypogonadism

We report an unusual case of sporadic adult onset cerebellar ataxia with hypogonadism. A 40-year-old unmarried man presented with progressive ataxia and dysarthria along with complaints of non-development of secondary sexual characteristics and erectile dysfunction. There were complaints of intermittent diarrhea. Clinical examination revealed a pan-cerebellar syndrome with features of hypoandrogenism. No eye movement abnormalities were evident. There were signs of malabsorption. Investigations confirmed the presence of auto-antibodies found in celiac disease, and a duodenal biopsy confirmed the same. Hypoandrogenism was postulated to be due to hypergonadotropic hypogonadism which has been mentioned in a few patients of celiac disease. However, the pattern seen in our patient was of a hypogonadotropic hypogonadism. This is probably secondary to an autoimmune hypophysitis seen in some patients in the absence of other clinical manifestations. Autoantibody testing should be a diagnostic necessity in any adult with a sporadic cerebellar ataxia.     

Cerebellar ataxia in the eastern and southern parts of Norway

Introduction –  The relative frequencies of different ataxias vary among different ethnic and geographic groups. The aim of this study was to examine patients with cerebellar ataxia and find the occurrence of autosomal dominant and recessive cerebellar ataxias in the population of the southern and eastern parts of Norway and estimate its prevalence.
Materials and methods –  Probands were systematically tested for spinocerebellar ataxia 1, 2, 3, 6 and Friedreich's ataxia. A total of 94 patients with ataxia were assessed.
Results –  We registered 60 patients from 39 unrelated families with hereditary ataxias. One family with SCA2 (two patients), one family with Friedreich's ataxia (two patients), two patients heterozygote for Friedreich's ataxia and one metabolic ataxia were identified.
Conclusions –  We have few Friedreich's ataxia and SCA 1,2,3 and 6 in our population. Prevalence in Oslo County was estimated at 2.2/100,000 for autosomal recessive and 3.0/100,000 for autosomal dominant ataxia, respectively.     

CT scan and threshold vibrometry in the diagnosis of spinocerebellar degenerations

45 patients with spinocerebellar degeneration (SCD) underwent through quantitative investigation of the ventricular and cisternal systems by CT scanning and threshold vibrometry in the limbs to find out whether these parameters could be used for distinguishing mainly spinal from cerebellar forms or from olivopontoce-rebellar atrophy. The increase in the vibration sense threshold and the mild atrophy in the posterior cranial fossa proved typical of spinal forms and the reverse for cerebellar forms. In olivopontocerebellar atrophy enlargement of the cisterns and dilatation of the ventricles always exceeded 85% of normal values.

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Sommario 45 pazienti affetti da degenerazione spinocerebellare (SCD) sono stati sottoposti ad uno studio approfondito di esplorazione quantitativa del sistema ventricolare e cisternale alla TAC e della soglia di percezione vibratoria agli arti per valutare la possibilità di distinguere con questi parametri le forme prevalentemente spinali da quelle cerebellari o delle atrofie olivopontocerebellari. L'aumento della soglia vibratoria e la modesta atrofia in fossa posteriore è risultata tipica delle forme spinali, mentre l'inverso si verifica per le forme cerebellari. Nelle atrofie olivopontocerebellari l'allargamento delle cisterne e la dilatazione dei ventricoli supera quasi sempre l'85% rispetto ai casi normali.

     

The modular architecture of the neglect syndrome: Implications for action control in visual neglect

In our recent review of action control deficits in hemispatial neglect we concluded that many patients with the disorder have deficits in visuomotor control [Coulthard, E., Parton, A., & Husain, M. (2006). Action control in visual neglect. Neuropsychologia, 44(13), 2717-2733]. This conclusion has been questioned and it has been argued instead that there are no action deficits in neglect [Himmelbach, M., Karnath, H.-O., & Perenin, M.-T. (2007). Action control is not affected by spatial neglect: A comment on Coulthard et al. Neuropsychologia, 45(8), 1979-1981]. We proposed that rather than being specific to the neglect syndrome, action control deficits are more likely to relate to lesion location. Although many of these impairments may contribute to the manifestation of neglect, they may also occur in brain-damaged patients without the condition. In this article, we explore this framework further, discussing how neglect behaviour may emerge from damage to a set of visuomotor or cognitive modules, or their connections. Central to our view is the idea that the critical combination of deficits leading to neglect varies considerably between cases, and that visuomotor or cognitive modules disrupted in the syndrome may not, in fact, be specific to neglect.     

Pathological study of corticospinal-tract degeneration in Friedreich''s ataxia

The pattern of fibre degeneration in the lateral corticospinal tract (LCST) was studied in a case of Friedreich's ataxia (FA). There was preferential involvement of the lateral area of the LCST in the cervical spinal cord. More caudally, the degeneration involved the entire area of the LCST and did not reveal a medial to lateral gradient of involvement. We suggest that this distinctive pattern of tract degeneration is a consequence of the somatotopic organization of the LCST, with the dying-back degeneration preferentially affecting those LCST fibers that extend to the lumbo-sacral spinal cord. This pattern of tract degeneration may be a useful morphological marker of dying-back degeneration in corticospinal tracts.     

Inter-rater reliability of the International Cooperative Ataxia Rating Scale (ICARS).

We assessed the inter-rater reliability of the 100-point International Cooperative Ataxia Rating Scale (ICARS). Three neurologists independently rated videotaped ICARS examinations of 22 subjects with genetically determined ataxias (spinocerebellar ataxia [SCA] Type 1 in 11; SCA Type 2 in 1; Friedreich's ataxia in 10) and 4 controls. Scores on live ICARS assessment had ranged from 0 to 7 for controls and 11 to 74 for ataxic subjects (clinically very mildly affected to wheelchair-bound). Inter-rater correlation was very high for the total score (Kendall's omega 0.994, 95% confidence interval, 0.988-0.997), and high to very high for each component subscore (0.791 for speech to 0.994 for posture/gait). All correlations were significant at P < 0.00001. The ICARS exhibits very high inter-rater reliability even without prior observer standardisation and is sensitive to a range of ataxia severities from very mild to severe.