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Magnetic Resonance Imaging in Degenerative J Neurol Neurosurg Psychiatry: First Published As 10.1136/Jnnp.57.1.51 on 1 January 1994

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Magnetic Resonance Imaging in Degenerative J Neurol Neurosurg Psychiatry: First Published As 10.1136/Jnnp.57.1.51 on 1 January 1994 J7ournal ofNeurology, Neurosurgery, and Psychiatry 1994;57:51-57 51 Magnetic resonance imaging in degenerative J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.57.1.51 on 1 January 1994. Downloaded from ataxic disorders I E C Ormerod, A E Harding, D H Miller, G Johnson, D MacManus, E P G H du Boulay, B E Kendall, I F Moseley, W I McDonald Abstract orders is difficult; early attempts were based MRI of the brain was performed in 53 exclusively on pathological findings, but it has patients with a variety of degenerative been suggested that disease categories can be ataxias and related disorders and 96 con- more usefully defined using clinical and trol subjects. Atrophy of intracranial genetic criteria.' Autopsy data are relatively structures was not seen in patients with scarce and a reliable method for definition of the pure type of hereditary spastic para- involved structures during life could con- plegia, or in early cases of Friedreich's tribute to classification and more precise ataxia. In advanced Friedreich's ataxia diagnosis. Computerised tomography has a there was atrophy of the vermis and limited role to play in this respect, as images medulla. The MRI features of early onset of posterior fossa structures are usually of rel- cerebellar ataxia with retained reflexes atively poor quality compared with those of were variable, and suggest heterogeneity. the cerebral hemispheres. Magnetic reso- In autosomal dominant cerebellar atax- nance imaging provides superior images of ias, most patients had cerebellar and the brainstem and cerebellum,26 and has brainstem atrophy, probably reflecting been used to study small series of patients the pathological process of olivoponto- with degenerative ataxic disorders with useful of the distribution of in the Institute ofNeurology, cerebellar atrophy; there was no clearly definition atrophy London, UK defined group with both clinical and brain.79 In larger series it has been suggested NMR Research Group imaging features of isolated cerebellar that MRI offers a useful adjunct to clinical I E C Ormerod features for diagnostic and prognostic pur- D H Miller involvement. The MRI abnormalities in G Johnson idiopathic late onset cerebellar ataxia poses.'01' We report on 53 patients with a D MacManus were predoinantly those of cerebellar variety of degenerative ataxias studied by W I McDonald and brainstem atrophy or pure cerebel- MRI, comparing the findings in different dis- University lar atrophy. The clinical and imagig ease groups, and also with those seen in 96 Department of Clinical Neurology features of brainstem abnormalities were control subjects. I E C Ormerod discordant in several patients. Pure cere- A E Harding bellar atrophy was associated with slower D H Miller G Johnson progression of disability. Cerebral atro- Subjects in the late onset atax- CONTROLS D MacManus phy was common http://jnnp.bmj.com/ W I McDonald ias. Cerebral white matter lesions, MRI was performed in 96 control subjects Department of although usually few in number, were aged 18-73 years (table 1). Sixty-four were Neuroradiology, more aged less than 50 years and 32 were 50 years National Hospital for observed in significantly patients Neurology and than controls, particularly those aged or over. Seventy-six of these were normal vol- Neurosurgery, over 50 years. unteers from the Salvation Army or from the London, UK staff of the National Hospital who were not E P G H du Boulay B E Kendall (7 Neurol Neurosurg Psychiatry 1994;57:5 1-57) examined clinically but who had no previous I F Moseley neurological history. The remainder (20) on September 29, 2021 by guest. Protected copyright. Correspondence to: were neurological control subjects who were Professor A E Harding, investigated at the National Hospital for dis- University Department of The degenerative ataxias are a heterogeneous Clinical Neurology, Institute group of disorders, many of which are geneti- orders of peripheral nerves or the spinal cord ofNeurology, Queen that are not associated with brain pathology. Square, London WC1N cally determined. Their clinical features are 3BG, UK. diverse, with variable degrees of cerebral These patients had no signs attributable to Received 4 December 1992 hemisphere, brainstem, spinal cord, and neurological dysfunction above the foramen and in revised form magnum. 16 March 1993. peripheral nerve dysfunction in addition to Accepted 15 April 1993 cerebellar ataxia. Classification of these dis- PATIENTS Of the 53 patients with ataxia (table 1), 30 were aged under 50 years and 23 were aged Table 1 Control subjects andpatients studied 50 years or more. They were subdivided into Age range Disease duration range six categories on clinical grounds (table 1). Disease category Number (years) (mean) (years) (mean) There were six patients with Friedreich's Controls 96 18-73 (41) N/A ataxia"2 and six with early onset cerebellar Friedreich's ataxia 6 13-38 (23) 9-25 (15) Early onset ataxia/retained reflexes 6 17-42 (28) 1-27 (14) ataxia with retained reflexes. 13 Fourteen Autosomal dominant cerebellar ataxia 14 22-66 (49) 2-25 (16) patients had autosomal dominant cerebellar Idiopathic late onset cerebellar ataia with other features 10 39-73 (61) 3-14 (7) ataxia (ADCA; table 2); seven had additional pure 10 38-64 (51) 2-30 (10) features such as supranuclear ophthalmople- Hereditary spastic paraplegia 7 13-39 (27) 2-33 (14) gia, pseudobulbar palsy, and mild dementia 52 Ormerod, Harding, Miller, J'ohnson, MacManus, du Boulay, Kendall, Moseley, McDonald Table 2 Clinical and imagingfeatures ofpatients with autosomal dominant cerebellar ataxia J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.57.1.51 on 1 January 1994. Downloaded from Atrophy Age Duration No. (years) (years) Type Features CH Vermis Medulla Pons Midbrain Cerebrum WML 1 55 11 I B,N - + + - - + + + 2 48 6 I SNO + + + + ++ - 3 61 20 I SNO,D - + + - - - - + 4* 61 15 I SNO +++ + ++ ++ + + + + + + + + 5* 60 25 I SNO + + + + ++ ++ + +- + + + 6 34 6 I SNO,D,B + + + + + + + ++ - - - 7 51 7 I D ++ +++ +++++ ++ ++ - 8 29 3 II R - + + + + + + + + + ++ - 9 56 20 II R + + + + + + + + + + + + ++ _ 10 66 3 III - + + + +++ - + + + + 11 61 5 III - + + + + + + + - - + 12 34 8 D,My,N - - - - - + + + 13 53 25 with ET - - ++ - - - ++ - 14 20 2 withdeafness - +++ - + - *Siblings. B = bulbar dysfunction; SNO = supranuclear ophthalmoplegia; D = dementia; N = neuropathy; R = retinopathy; M = myoclonus; ET = essential type of tremor; CH = cerebellar hemispheres; WML = white matter lesions. +, ++, +++ = mild, moderate, and severe atrophy, respectively. (ADCA type I), two had maculopathy published criteria.' For patients with ILOCA, (ADCA type II), three a later onset pure cere- disability was assessed on a four point scale: bellar syndrome (ADCA type III),14 and three (1) mild ataxia, able to work; (2) unable to more unusual dominant ataxias, including a work, able to walk and perform activities of syndrome of ataxia, dementia, and daily living; (3) as (2), but unable to walk myoclonus exhibiting paternal transmission. unassisted or chairbound; (4) chairbound, Ten patients had idiopathic late onset cere- dependent on others for activities of daily bellar ataxia (table 3)15 with other clinical fea- living. A severity score related to disease tures such as supranuclear ophthalmoplegia, duration was obtained by dividing disability peripheral neuropathy, mild dementia, optic score by disease duration in years and multi- atrophy, and parkinsonism (ILOCA/O). All plying by 100. presented with ataxia and this remained the predominant feature. Only one had clinical or Methods investigative evidence of autonomic failure MAGNETIC RESONANCE IMAGING and thus fulfilled the criteria for a diagnosis of All subjects were examined on a Picker 0 5 T multiple system atrophy'6. Ten had pure MR imaging system. Multi-slice, contiguous ILOCA (ILOCA/P)-that is, no neurological 5 mm thick axial T2-weighted spin echo (SE dysfunction other than a cerebellar syn- 2000/60) images were taken throughout the drome'5. The last group consisted of seven brain, to optimise the detection of white mat- patients with hereditary spastic paraplegia, ter lesions. Axial inversion recovery (IR either with the pure form (five cases) or with 2000/40/500) images were performed in most additional clinical features.'7 subjects to facilitate assessment of cerebral Each patient was examined by one of the atrophy. Tl-weighted (IR 2000/500/40 or SE http://jnnp.bmj.com/ authors (IECO or AEH). The case notes of 500/40) sagittal images were obtained in most all patients were individually reviewed by control subjects and all patients, to assess the AEH for the purpose of diagnostic classifica- degree of atrophy of the posterior fossa struc- tion, which was made according to previously tures. Table 3 Clinical and imagingfeatures ofidiopathic late onset cerebellar ataxia on September 29, 2021 by guest. Protected copyright. Atrophy Age Duration Disability No. (years) (years) score Features CH Vermis Medulla Pons Midbrain Cerebrum WML ILOCA (0) 15 62 6 33 P,A + + 16 66 14 21 D ++ - + ++ 17 57 4 50 D,SNO + + 18 68 4 50 D + + + + 19 73 8 25 OA + ++ 20 64 3 67 p + + 21 64 6 33 SNO + + + ++ ++++ 22 62 7 28 N + +++ + ++ + + 23 39 9 22 N _- 24 54 9 22 N + + _- ILOCA (P) 25 41 3 33 + + 26 38 2 100 _ +++ - ++ + 27 64 4 11 28 62 30 67 _ +++ 29 56 2 150 ++ ++ ++ ++ 30 39 8 12 ++ ++ 31 41 5 22 - ++ 32 60 11 27 _ +++ 33 56 6 50 - ++ 34 56 27 11 ++ Abbreviations as in table 2, plus P = parkinsonism; A = autonomic failure; OA = optic atrophy. ILOCA(O) = idiopathic late onset cerebellar ataxia with other neurological dysfunctions; ILOCA(P) = ataxia alone. MRI in degenerative ataxic disorders 53 Table 4 Frequency ofcerebral white matter lesions mild atrophy were over the age of 50 years, J Neurol Neurosurg Psychiatry: first published as 10.1136/jnnp.57.1.51 on 1 January 1994.
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