Spastic Cerebellar Ataxia of Charlevoix-Saguenay

Update item information
Identifier 924-3
Title Spastic Cerebellar Ataxia of Charlevoix-Saguenay
Ocular Movements Supranuclear Paralysis of Vertical Gaze; Slow Horizontal Hypometric Saccades; Convergence Absent; Saccadic Pursuit; Saccadic Dysmetria; Vertical Oculocephalic Reflex Normal; Optokinetic Nystagmus Absent:
Creator Shirley H. Wray, M.D., Ph.D., FRCP, Professor of Neurology Harvard Medical School, Director, Unit for Neurovisual Disorders, Massachusetts General Hospital
Contributor Primary Shirley H. Wray, MD, PhD, FRCP, Professor of Neurology, Harvard Medical School; Director, Unit for Neurovisual Disorders, Massachusetts General Hospital
Subject Supranuclear Paralysis of Vertical Gaze; Slow Horizontal Hypometric Saccades; Convergence Absent; Saccadic Pursuit; Saccadic Dysmetria; Vertical Oculocephalic Reflex Normal; Optokinetic Nystagmus Absent; Autosomal Recessive Spastic Cerebellar Ataxia of Charlevoix-Saguenay; Supranuclear Paralysis of Up and Downgaze Degeneration; Slow Hypometric Horizontal Saccades; Olivopontocerebellar Degeneration
Presenting Symptom Ataxia
History The patient is a 19 year old high school student who carried the diagnosis of autosomal recessive spastic cerebellar ataxia of Charlevoix-Saguenay. He was born at term, walked at 9 months and developed well with normal milestones. At age 10 he began to have difficulty speaking, occasional involuntary movements of the head and progressive clumsiness playing baseball, falling when running and unsteady on his feet. He attended normal classes at school up to the 8th grade when he fell behind and had to attend special classes. In his late teens he worked occasionally as a bagger at a supermarket. By age 17 he needed to use a walker to walk and by age 23 he was wheelchair bound. In March 1988 at age 19 he was referred to Dr. Elizabeth Dooling, a neuropediatrician at the Massachusetts General Hospital and was admitted under her care for evaluation of progressive mental retardation, memory loss, increased drooling and inability to care for himself. Past History: Mentally retarded Seizure disorder since childhood. 1987 Nerve conduction studies and visual evoked potentials normal. 1989 Treated for reactive psychosis Resolved with antipsychotic medication 1990 Given a diagnosis of olivo-ponto-cerebellar degeneration. Family History: Negative for neurological disease. Brother, age 24, normal Both parents came from the Nova Scotia region of Canada. Father, French-Canadian with 5 siblings, no neurological disease. Mother had an Italian father and German mother and also 5 siblings, no neurological disease. Neurological Examination: Mentally retarded Patient sitting in a wheelchair unable to communicate because of severe spastic ataxic dysarthria. Small spastic tongue that moved only minimally Able to show two fingers but unable to subtract 7 from 100 Slow obeying one-step commands He had occasional extensor movements of the legs Dystonic posture of the hands, Axial extensor rigidity, particularly in the neck Motor System: Marked increase in tone in the neck, trunk and limbs Movement of the arms and legs produced a rubral tremor and profound ataxia Strength was good allowing for the extent to which it was testable. Hyperreflexia bilaterally with sustained ankle clonus Plantar responses extensor No Pes cavus Sensory System: Limited exam but normal for light touch and vibration sense. Coordination: Marked ataxia finger-nose-finger test Bilateral dysdiadochokinesis Lower extremity ataxia heel-knee-shin test and foot tapping Trunkal ataxia and wide-based gait, only able to take a few steps. Neuro-Ophthalmological Examination: Visual acuity J2 OU Visual fields, color vision and pupils normal. Dilated fundus exam: normal optic discs, granularity of the macular area, no retinal striation of the nerve fiber layer in the papulomacular bundle. Ocular Motility: Supranuclear vertical gaze palsy (saccades and pursuit) Slow to initiate horizontal eye movements on command Slow horizontal hypometric saccades To look rapidly to left or right he used a head thrust maneuver to initiate spontaneous doll's head movements. Convergence absent Saccadic pursuit in all directions of gaze Saccadic dysmetria - hypermetric right gaze to center and left gaze to center No nystagmus No skew deviation No square wave jerks Deviation of the eyes up under closed lids (Bell's phenomenon) Vertical oculocephalic reflex normal Optokinetic nystagmus could not be elicited Constellation of Signs: 1. Spastic quadraparesis 2. Marked cerebellar ataxia 3. Spastic and ataxic dysarthria 4. Global supranuclear paralysis of vertical gaze 5. Slow horizontal hypometric saccades 6. Saccadic pursuit 7. Saccadic dysmetria Investigations were extensive and ruled out Neimann-Pick disease, types A, B and C and atypical mitochondrial disease. Aminoacid analysis (Complete panel) normal pattern Brain MRI showed: A possible signal abnormality in the posterior periventricular region and red nucleus. No atrophy of the cerebellum or brainstem. Normal ventricles. PET Scan: Normal Electroencephalogram: Normal. Nerve Conduction Studies: Evidence of a mild left peroneal neuropathy and minimal peripheral neuropathy. Skin/muscle Biopsy: Skin, muscle and Schwan cells showed no evidence of storage disease
Clinical This 19 year old boy with autosomal recessive spastic cerebellar ataxia had profound dysarthria making it hard to understand his speech The ocular motility signs were: • Supranuclear vertical gaze palsy (saccades and pursuit) • Slow horizontal hypometric saccades with catch-up saccades • Convergence absent • Smooth pursuit to a slow target normal • Saccadic pursuit to a faster target in all directions • Saccadic hypermetria • Deviation of the eyes up under closed lids (Bell's phenomenon) • Vertical oculocephalic reflex normal • Optokinetic nystagmus could not be elicited In the limbs: • Profound ataxia on finger-nose-finger test • Marked past pointing attempting to follow the movements of the examiner's finger • Severe ataxia in the lower limbs The Charlevoix-Saguenay syndrome is thought to be a distinct entity or at least a more advanced form of previously described recessive spastic ataxia. The disease in Quebec is progressive even if relatively slow. In 1978 the Quebec Cooperative Study of Friedreich's Ataxia reported this new syndrome of autosomal recessive spastic ataxia isolated in the Charlevoix-Saguenay region of Quebec. Charlevoix county is a mountainous area east of Quebec city on the northshore of the St. Lawrence river. Between 1665 and 1725, some forty families migrated from the capital, settled around Baie St-Paul and propagated with astonishing fertility. In 1976, Bouchard and colleagues reported their findings of a remarkably homogeneous group of patients, with, typically, spasticity, dysarthria, distal muscle wasting, foot deformities, trunkal ataxia, absence of sensory evoked potentials in the lower limbs, retinal striation reminiscent of early Leber's hereditary optic atrophy and in 57% of cases prolapse of the mitral valve. The data was accumulated by examination of 42 patients from 24 sibships, 14 of 42 were admitted for investigation. The results of the tests showed that many patients had biochemical changes which included impaired pyruvate oxidation, hyperbilirubinemia, or low serum beta-lipoproteins and HDL apoproteins. The clinical features of autosomal recessive spastic ataxia of Charlevoix-Saguenay are very similar to those found in typical Friedreich's ataxia, and Bouchard found that some of the patients had been diagnosed as "atypical Friedreich's ataxia" or a "forme de passage" between Friedreich's ataxia and spastic paraplegia. The presence of a mild peripheral neuropathy in the legs in our patient is typical for the Charlevoix-Saguenay syndrome but, the absence of nystagmus is atypical as all of the cases reported by Bouchard had a horizontal nystagmus and occasionally a more irregular vertical nystagmus. The presence of saccadic pursuit eye movements and horizontal saccadic hypermetria are remarkable features present in most cases of familial spastic ataxia. Wadia and Swami reported similar findings in heredo-familial spinocerebellar degeneration and Zee, Cogan et al in patients with hereditary cerebellar ataxia. Dr. Zee implied a specific role for the cerebellum in helping to maintain eccentric gaze, in producing smooth pursuit eye movements and in modulating the amplitude of saccadic eye movements.
Neuroimaging No neuroimaging studies are available in this patient.
Pathology Inherited degenerative disorder
Disease/Diagnosis Autosomal recessive spastic cerebellar ataxia of Charlevoix-Saguenay
Treatment In 1993 G-tube placed In 1995 tracheotomy placed
References 1. Andermann E, Andermann F, Joubert M, Karpati G, Carpenter S, Melanson D. Familial agenesis of the corpus callosum with anterior horn cell disease: A syndrome of mental retardation, areflexia, and paraparesis. Transactions of the American Neurological Association, New York, 1972;97: 242-244. 2. Andermann E, Andermann F, Carpenter S, Karpati G, Eisen G, Melancon D, Bergeron D. Agenesis of corpus callosum with sensorimotor neuropathy: a new autosomal recessive malformation syndrome with high frequency in Charlevoix County, Quebec. Vth International Conference on Birth Defects, Montreal, August 1977. 3. Bouchard JP, Barbeau A, Bouchard R, Bouchard RW. Autosomal recessive spastic ataxia of Charlevoix-Saguenay. Canadian Journal of Neurological Sciences, Winnipeg, 1978; 5: 61-69. 4. Holmes G. Family spastic paralysis associated with amyotrophy. Rev. Neurol. Psychiat 1905;3:257-263. 5. Labrisseau A, Vanasse M, Brochu P, Jasmin G. The Andermann syndrome: Agenesis of the corpus callosum associated with mental retardation and progressive sensorimotor neuropathy. Canadian Journal of Neurological Sciences, Winnipeg, 1984;11:257-261. 6. Nikoskelainen E, Sogg RL, Rosenthal AR, Friberg TR, Dorfman LJ. The early phase in Leber hereditary optic atrophy. arch Ophthal 1977;95:969-978. 7. Wadia H, Swami RK. A new form of heredo-familial spinocerebellar degeneration with slow eye movements. Brain 1971;94:359-374. 8. Zee DS, Yee RD, Cogan DG, Robinson DA, Engel WK. Ocular motor abnormalities in hereditary cerebellar ataxia. Brain 1976;99:207-234.
Contributor Secondary Ray Balhorn, Video Compressionist; Steve Smith, Videographer
Publisher Spencer S. Eccles Health Sciences Library, University of Utah
Date 1988
Type Image/MovingImage
Format video/mp4
Source 3/4" Umatic master videotape
Rights Management Copyright 2002. For further information regarding the rights to this collection, please visit:
Holding Institution Spencer S. Eccles Health Sciences Library, University of Utah, 10 N 1900 E, SLC, UT 84112-5890
Collection Neuro-ophthalmology Virtual Education Library: NOVEL
Language eng
ARK ark:/87278/s66b0141
Setname ehsl_novel_shw
Date Created 2005-08-22
Date Modified 2021-05-06
ID 188544
Reference URL