DIAGNOSTIC FORM FOR SPINOCEREBELLAR DEGENERATION (ATAXIA AND/OR SPASTIC PARAPARESIS) Sex: Follow up n :

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1 SPATAX-EUROSPA proposal 9--6 DIAGNOSTIC FORM FOR SPINOCEREBELLAR DEGENERATION (ATAXIA AND/OR SPASTIC PARAPARESIS) Date: / / Center: Neurologist: Stick the identification tag Code ID patient: Birthdate: / / Proband: Initial exam: Sex: female male Follow up n : A. FAMILIAL HISTORY (add pedigree) B. AGE Spastic paraparesis and/or ataxia in the family? Other familial disease Specify: Consanguinity Specify: Parental inheritance of the disease Paternal Age at ONSET: Age at examination: Maternal Geographical origin of the transmitting parent: C. DEVELOPMENT AND SIGNS AT ONSET rmal Delayed D. PREDOMINANT SIGNS at examination Specify: SPASTICITY Motor development ne Intellect. development Signs at onset CEREBELLAR ATAXIA Mild Moder. Severe ne Mild Moder. Severe Upper limbs At age Lower limbs* Unsteadiness Gait Dysarthria Dysarthria Stiff legs * at rest for spasticity and knee-heel for ataxia Cramps Medical exam Pain Other : Please specify: E- DISABILITY STAGE At age At age : no functional handicap : severe, walking with one stick : no functional handicap but signs at examination 5: walking with two sticks : mild, able to run, walking unlimited 6: unable to walk, requiring wheelchair : moderate, unable to run, limited walking without aid 7: confined to bed

2 F- OTHER CLINICAL SIGNS. Reflexes. Motor deficit rmal Increased Diffused Decreased Absent Clonus ne Jaw jerk Facial palsy/ atrophy Biceps Proximal UL Finger flexor Distal UL Patellar Proximal LL Adductor Distal LL Mild /5 Moderat Severe -/5 </5 Ankle Absent Present Hoffmann s sign Flexor Indifferent Unilat. Bilat. Plantar reflex. Fasciculations or Myokymias (Facial contraction fasciculations) please circle. Muscle wasting ne Mild Moderate Severe Localisation: Proximal UL Distal UL Proximal LL Distal LL 5. Sensory deficit 6. Skeletal abnormalities ne Mild Moderate Severe Abolished Vibration sense (ankles) Superficial sensory loss ne Mild Moderate Severe Scoliosis (8/8) (> 5/8) (-5/8) (</8) Touch Prick Cold Describe: (/8) Pes cavus Other: 7. Facial dysmorphia 8. Sphincter and sexual disturbances ne Mild 9. Extra-pyramidal symptoms Moderate Severe ne Urinary urgency Resting tremor Urinary incontinence Postural tremor Urinary retention Chorea Anal incontinence Dystonia Impaired sexual function Myoclonus Early menopause At age: Mild Moderate Severe Specify: Hypokinesia Rigidity

3 . Ophtalmological signs * Oculomotor Diplopia Nystagmus Describe: Ptosis Saccadic pursuit Describe: Eye lid retraction (bulging eyes) Slow saccades Diminished visual acuity At age: * Fundus Optic atrophy Retinis Pigmentosa Other: Abnormal. Mental status Intellectual deterioration Mental retardation Psychiatric symptoms Ocular motor apraxia Vertical ophthalmoplegia Describe: Horizontal ophthalmoplegia Describe:. Other signs Describe At age: Type: Dysphagia Severity: At age: Type: Skin problems Describe: Hearing impairment Epilepsy At age: Type: : Other medical complaints: G- FUNCTIONAL CLINICAL EVALUATION - Please perform ALL tests listed in annexes and indicate scores below - SPRS (annex ) : / 5-5 feet ambulatory test (annex ): sec - SARA (annex ) : / - UHDRS functional part IV (annex 5): / 5 - CCFS (annex ) : H- CLINICAL DIAGNOSTIC CONCLUSION Cerebellar ataxia Spastic paraparesis Autosomal dominant Pure form Definitely affected Autosomal dominant Pure form Definitely affected Autosomal recessive Complicated form Probably affected (only dysarthria) Autosomal recessive Complicated form Probably affected (enhanced or very brisk LL reflexes +/- Babinski) Isolated case X-linked Genes/Loci to test: Possibly affected (only mild gait ataxia) Isolated case Possibly affected (enhanced LL reflexes) X-linked I- MOLECULAR DIAGNOSIS Diagnosis:

4 J- COMPLEMENTARY INVESTIGATIONS EXAMINATION NOT NORABDONE MAL NORMAL SPECIFY EXAMINATION. Cerebral MRI NOT NORABDONE MAL NORMAL SPECIFY. Medullar MRI ne Mild Moder. Severe ATROPHY - Cerebrum ne Mild Moder. Severe - Upper spinal cord - Cerebellum - Brainstem - Corpus callosum EXAMINATION NOT NORABDONE MAL NORMAL SPECIFY EXAMINATION. EMG + NCV UL 9. VLCFA. EMG + NCV LL. α-foetoprotein 5. VEP. Cholesterol 6. AEP. Serum protein electrophoresis 7. MEP. Vitamin E 8. SEP. Apolipoprotein A, B EXAMINATION NOT NORABDONE MAL NORMAL NOT NORABDONE MAL NORMAL SPECIFY SPECIFY 5. Muscle biopsy 6. Skin biopsy 7. ERG 8. Fundus examination 9. Neuropsychological exam - IQ. Urodynamics. Urine density K- STORED MATERIAL DNA Immortalized cell lines Muscle tissue Skin biopsy Nerve biopsy Other:

5 ANNEX : Spastic Paraplegia Rating Scale (SPRS) () Walking distance without pause Due to history, walking aids allowed : rmal, unlimited : Abnormal exhaustion due to spasticity after more than 5m : Walking distance less than 5m : Walking distance less than m : Unable to walk () Gait quality Patient is asked to walk as fast as possible a meter distance including one turn : rmal : Mild stiffness, running still possible : Clearly spastic gait, interfering with running : Spastic gait requiring use of canes/walker : Unable to walk for a meter distance even with maximal support () Maximum gait speed Time for a meter distance including one turn, taken by stop watch Timing: : rmal : Slightly reduced (m: 5s) sec : Moderately reduced (m: s) : Severely reduced (m: s) : Unable to walk for a m distance or time s () Climbing stairs 5 steps upstairs - turn - 5 steps downstairs : rmal: needs no support of the banister : Mild impairment: needs intermittent support of the banister : Moderate impairment: needs permanent support of the banister : Severe impairment: needs support of another person or additional walking aid to perform task : Unable to climb stairs (5) Speed of stair climbing Time for 5 steps upstairs - turn - 5 steps downstairs, taken by stopwatch Timing: : rmal : Slightly reduced ( 5s to perform task) sec : Moderately reduced ( s to perform task) : Severely reduced ( s to perform task) : Unable to climb stairs (6) Arising from chair Patient attempts to arise from a straight-back wood or metal chair with arms folded across chest : rmal : Slow, or may need more than one attempt. : Pushes self up from arms of seat. : Tends to fall back and may have to try more than one time but can get up without help. : Unable to arise without help. (7) Spasticity -hip adductor muscles (Modified Ashworth scale) Score more severely affected side : increase in muscle tone : Slight increase in muscle tone, manifested by a catch and release : More marked increase in muscle tone through most of the range of motion : Considerable increase in muscle tone - passive movement is difficult : Limb stiff in adduction (8) Spasticity -knee flexion (Modified Ashworth scale) Score more severely affected side : increase in muscle tone : Slight increase in muscle tone, manifested by a catch and release : More marked increase in muscle tone through most of the range of motion : Considerable increase in muscle tone - passive movement is difficult : Limb stiff in flexion or extension (9) Wealkness -hip abduction (Medical Research Council 976) : weakness : Mild weakness (/5) : Moderate weakness (/5) : Severe weakness (-/5) : Plegia (/5) () Weakness -foot dorsiflexion (Medical Research Council 976) : weakness : Mild weakness (/5) : Moderate weakness (/5) : Severe weakness (-/5) : Plegia (/5) () Contractures of lower limbs Score in supine position Hip extension: lumbar spine and thighs touch the underlay. Hip abduction: abduction up to an angle of >6 between the legs possible Knee extension: thigh and calf touch the underlay Ankle dorsal extension: > possible. Ankle pronation: > possible : contracture : Mild, not fixed abnormal position of one joint (unilaterally or bilaterally) : Fixed contracture of one joint (unilaterally or bilaterally) : Fixed contracture of two joints (unilaterally or bilaterally) : Fixed contracture of more than two joints (unilaterally or bilaterally) () Pain due to SP related symptoms : ne : 5% of waking day present AND intensity - visual analogue scale : 5% of waking day present AND intensity - visual analogue scale : > 5% of waking day present AND intensity - analogue scale : > 5% of waking day present AND intensity - visual analogue scale points on points on on visual points on () Bladder and bowel function : rmal bladder and bowel function : Urinary or fecal urgency (difficulties to reach toilet in time) : Rare and mild urge incontinence (no nappy required) : Moderate urge incontinence (requires nappy or catheter when out of the house) : Permanent catheterization or permanent nappy Total SPRS Score: /5 5

6 ANNEX : Scale for the Assessment and Rating of Ataxia (SARA) ) Gait Proband is asked () to walk at a safe distance parallel to a wall including a half-turn (turn around to face the opposite direction of gait) and () to walk in tandem (heels to toes) without support. rmal, no difficulties in walking, turning and walking tandem (up to one misstep allowed) Slight difficulties, only visible when walking consecutive steps in tandem Clearly abnormal, tandem walking > steps not possible Considerable staggering, difficulties in half-turn, but without support Marked staggering, intermittent support of the wall required 5 Severe staggering, permanent support of one stick or light support by one arm required 6 Walking > m only with strong support (two special sticks or stroller or accompanying person) 7 Walking < m only with strong support (two special sticks or stroller or accompanying person) 8 Unable to walk, even with supported Score : ) Sitting Proband is asked to sit on an examination bed without support of feet, eyes open and arms out stretched to the front. rmal, no difficulties sitting > sec Slight difficulties, intermittent sway Constant sway, but able to sit for > s without support Able to sit for > s only with intermittent support Unable to sit for > s without continuous support Score : 5) Finger chase (Rated separately for each side) Proband sits comfortably. If necessary, support of feet and trunk is allowed. Examiner sits in front of proband and performs 5 consecutive sudden and fast pointing movements in unpredictable directions in a frontal plane, at about 5 % of proband s reach. Movements have an amplitude of cm and a frequency of movement every s. Proband is asked to follow the movements with his index finger, as fast and precisely as possible. Average performance of last movements is rated. dysmetria Dysmetria, under/ overshooting target <5 cm Dysmetria, under/ overshooting target < 5 cm Dysmetria, under/ overshooting target > 5 cm Unable to perform 5 pointing movements Score Right: Left: Mean of both sides (R+L)/ 7) Fast alternating hand movements (Rated separately for each side) Proband sits comfortably. If necessary, support of feet and trunk is allowed. Proband is asked to perform cycles of repetitive alternation of pro- and supinations of the hand on his/her thigh as fast and as precise as possible. Movement is demonstrated by examiner at a speed of approx. cycles within 7 s. Exact times for movement execution have to be taken. rmal, no irregularities (performs <s) Slightly irregular (performs <s) Clearly irregular, single movements difficult to distinguish or relevant interruptions, but performs <s Very irregular, single movements difficult to distinguish or relevant interruptions, performs >s Unable to complete cycles ) Stance Proband is asked to stand () in natural position, () with feet together in parallel (big toes touching each other), and () in tandem (both feet on one line, no space between heel and toe). Proband does not wear shoes, eyes are open. For each condition, three trials are allowed. Best trial is rated. rmal, able to stand in tandem for > s Able to stand with feet together without sway, but not in tandem for > s Able to stand with feet together for > s, but only with sway Able to stand for > s without support in natural position, but not with feet together Able to stand for > s in natural position only with intermittent support 5 Able to stand > s in natural position only with constant support of one arm 6 Unable to stand for > s even with constant support of one arm Score : ) Speach disturbance Speech is assessed during normal conversation. 5 6 rmal Suggestion of speech disturbance Impaired speech, but easy to understand Occasional words difficult to understand Many words difficult to understand Only single words understandable Speech unintelligible / anarthria Score : 6) se-finger test (Rated separately for each side) Proband sits comfortably. If necessary, support of feet and trunk is allowed. Proband is asked to point repeatedly with his index finger from his nose to examiner s finger which is in front of the proband at about 9% of proband s reach. Movements are performed at moderate speed. Average performance of movements is rated according to the amplitude of the kinetic tremor. tremor Tremor with an amplitude < cm Tremor with an amplitude < 5 cm Tremor with an amplitude > 5 cm Unable to perform 5 pointing movements Score Right: Left: Mean of both sides (R+L)/ 8) Heel-shin slide (Rated separately for each side) Proband lies on examination bed, without vision of his legs. Proband is asked to lift one leg, point with the heel to the opposite knee, slide down along the shin to the ankle, and to lay the leg back on the examination bed. The task is performed times. Slide-down movements should be performed within s. rmal Slightly abnormal, contact to shin maintained Clearly abnormal, goes off shin up to times during cycles Severely abnormal, goes off shin or more times during cycles Unable to perform the task 6

7 Score Right: Mean of both sides (R+L)/ Left: Score Right: Left: Mean of both sides (R+L)/ 7

8 ANNEX : Composite Cerebellar Functional Severity Score (CCFS and CCFSw) December Dominant hand: left right For ambidextrous person or frustrated left-hander, take the faster hand and add a comment. Comments: Nine-hole pegboard test The patient is seated and holds nine dowels (5 mm in diameter and 9 mm long) in one hand and places them randomly, one by one, with the other hand in a board with nine holes*. Timing begins when the first peg is placed in a hole and ends when the last peg is placed. The examiner holds the board steady on the table during the test. The trial is performed with the dominant hand. If the patient drops a peg the examiner stops the timer and the patient starts the test again once from the beginning. Timing Dominant hand: I I I I sec The patient is seated facing the examiner across a table on which is placed a device composed of two mechanical counters fixed on a wooden structure on a line at a distance of 9 cm. The counters were purchased from the IVO GmbH&Co under reference "Mechanical metal manual piece counters- T for table mounting". The patient uses his index finger to press the buttons on the counters alternately times. Timing begins when the first button is pressed and stops when the second counter reaches. The trial is performed once with the dominant hand. Timing Dominant hand: I I I I sec * board: 5mm height X 8mm long X 8mm large; holes: 7mm width X mm depth; Distance between holes: mm The patient is asked to write a standard sentence ( maître corbeau sur un arbre perché ), with his dominant hand, as fast as possible, but legibly. He is timed from when he begins to write until he completes the sentence. Timing Dominant hand: I I I I sec Z pegboard dominant hand = Pegboard DH (.-.6*age +.*age) = I I I I I, I I Z click dominant hand = Click DH (8+.5*age) = I I I I I, I I Z writing dominant hand = Writing DH (8.5+.5*age) = I I I I I, I I = I I, I I I I (Mean normal values:.85 ±.5 (min=.6 max=.9)) = I I, I I I I (Mean normal values:.85 ±.5 (min=.65 max=.96)) 8

9 ANNEX : 5 feet ambulatory test (from the Friedreich Ataxia Rating Scale) To test gait, place markers 5 feet apart in hallway with no furniture within reach of m/ ft. and no loose carpet. Patient walks 7.6 m/5 ft at normal pace, turns around using single step pivot and return to start. The activity is timed. te if the gait was achieved with or without helping device and serial examinations should be done with the same device as in the first examination. Helping device Describe: Time: sec 9

10 ANNEX 5: Unified Huntington's Disease Rating Scale (UHDRS) part IV: Functional Assessment IV. UHDRS - FUNCTIONAL ASSESSMENT NO YES. Could subject engage in gainful employment in his/her accustomed work?. Could subject engage in any kind of gainful employment? 5. Could subject engage in any kind of volunteer or non gainful work? 6. Could subject manage his/her finances (monthly) without any help? 7. Could subject shop for groceries without help? 8. Could subject handle money as a purchaser in a simple cash (store) transaction? 9. Could subject supervise children without help? 5. Could subject operate an automobile safely and independently? 5. Could subject do his/her own housework without help? 5. Could subject do his/her own laundry (wash/dry) without help? 5. Could subject prepare his/her own meals without help? 5. Could subject use the telephone without help? 55. Could subject take his/her own medications without help? 56. Could subject feed himself/herself without help? 57. Could subject dress himself/herself without help? 58. Could subject bathe himself/herself without help? 59. Could subject use public transportation to get places without help? 6. Could subject walk to places in his/her neighbourhood without help? 6. Could subject walk without falling? 6. Could subject walk without help? 6. Could subject comb hair without help? 6. Could subject transfer between chairs without help? 65. Could subject get in and out of bed without help? 66. Could subject use toilet/commode without help? 67. Could subject s care still be provided at home? Functional Assessment Score: /5 68. Information Sources Subject only Was the Functional Assessment information obtained from: Subject and family/companion