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September 1993, Vol 50, No. 9 >
Article | September 1993

Visual Evoked Potential Characteristics and Early Diagnosis of Pelizaeus-Merzbacher Disease

P. Apkarian, PhD; J. C. Koetsveld-Baart, MD; P. G. Barth, MD, PhD
[+] Author Affiliations

Accepted for publication September 24, 1992.

Reprint requests to Department of Physiology I, Erasmus University, PO Box 1738, 3000 DR Rotterdam, the Netherlands (Dr Apkarian).


Arch Neurol. 1993;50(9):981-985. doi:10.1001/archneur.1993.00540090078014
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Article
References
Comments

• Objective.  —Early diagnosis of Pelizaeus-Merzbacher disease; assessment of disease progression.

Design.  —Pediatric neuro-ophthalmology evaluation of visual function with pattern and luminance visual evoked potentials; behavioral state assessment; electrophysiological diagnostic test; baseline estimates at the age of 11 weeks; 1-year follow-up.

Setting.  —University hospital electrodiagnostic vision research laboratory.

Patients.  —Case study: X-linked Pelizaeus-Merzbacher disease; leukodystrophy; patient tested at the age of 11 weeks and at the age of 58 weeks for follow-up; five age-matched normal controls.

Interventions.  —Physical therapy, medication, evaluation.

Main Outcome.  —Early diagnosis; diagnostic confirmation; objective monitor of disease progression.

Results.  —Abnormal spatial and temporal vision and abnormal visual pathway maturation; visual evoked potentials of proband with Pelizaeus-Merzbacher disease were grossly abnormal, reflecting myelination disorder.

Conclusions.  —Visual evoked potential pediatric electrodiagnosis yields reliable measures of visual function and visual system maturation in leukodystrophy.

REFERENCES

1 +
Journel H, Roussey M, Gandon Y, Allaire C, Carsin M, Marec le B.  Magnetic resonance imaging in Pelizaeus-Merzbacher disease . Neuroradiology . 1987;;29:403-405.
2 +
Penner MW, Li KC, Gebarski SS, Allen RJ.  MR imaging of Pelizaeus-Merzbacher disease . J Comput Assist Tomogr . 1987;;11:591-593.
3 +
Boltshauser E, Schinzel A, Wichmann W, Haller D, Valavanis A.  Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging? Hum Genet . 1988;;80:393-394.
4 +
Seitelberger F.  Pelizaeus-Merzbacher disease . In: Vinken PJ, Bruyn GW, eds. Handbook of Clinical Neurology . Amsterdam, the Netherlands: North-Holland Publishing Co; 1970;;10:150-202.
5 +
Schneck L, Adachi M, Volk BW.  Congenital failure of myelinization: Pelizaeus-Merzbacher disease? Neurology . 1971;;21:817-824.
6 +
Koeppen AH, Ronca NA, Greenfield EA, Hans MB.  Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease . Ann Neurol . 1987;;21:159-170.
7 +
Moriguchi A, Ikenaka K, Furuichi T, Okano H, Iwasaki Y, Mikoshiba K.  The fifth exon of the myelin proteolipid protein—coding gene is not utilized in the brain of jimpy mutant mice . Gene . 1987;;55:333-337.
8 +
Willard HF, Riordan JR.  Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders . Science . 1985;;230:940-942.
9 +
Mattie MG, Alliel PM, Dautigny A, et al.  The gene encoding the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome . Hum Genet . 1986;;72:352-353.
10 +
Hudson LD, Puckett C, Berndt J, Chan J, Gencic S.  Mutation of the proteolipid protein gene PLP in a human X chromosome—linked myelin disorder . Proc Natl Acad Sci U S A . 1989;;86:8128-8131.
11 +
Trofatter JA, Dlouhy SR, DeMyer W, Conneally PM, Hodes ME.  Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant . Proc Natl Acad Sci U S A . 1989;;86:9427-9430.
12 +
Gencic S, Abuelo D, Ambler M, Hudson LD.  Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein . Am J Hum Genet . 1989;; 45:435-442.
13 +
Pratt VM, Trofatter JA, Schinzel A, Dlouhy SR, Conneally PM, Hodes ME.  A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease . Am J Med Genet . 1991;;38:136-139.
14 +
Bridge PJ, MacLeod PM, Lillicrap DP.  Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA . Am J Med Genet . 1991;;38:616-621.
15 +
Mallinson Al, Longridge NS, Dunn HG, McCormick AQ.  Vestibular studies in Pelizaeus-Merzbacher disease . J Otolaryngol . 1983;;12:361-364.
16 +
Trobe JD, Sharpe JA, Hirsh DK, Gebarski SS.  Nystagmus of Pelizaeus-Merzbacher disease: a magnetic search-coil study . Arch Neurol . 1991;;48:87-91.
17 +
King RA, Nelson LB, Wagner RS.  Spasmus nutans: a benign clinical entity? Arch Ophthalmol . 1986;;104;1501-1504.
18 +
Abel LA.  Ocular oscillations: congenital and acquired . Bull Soc Belge Ophtalmol . 1989;;237:163-189.
19 +
Gottlob I, Zubcov A, Catalano RA, et al.  Signs distinguishing spasmus nutans (with and without central nervous system lesions) from infantile nystagmus . Ophthalmology . 1990;;97:1166-1175.
20 +
Dell'Osso LF, Daroff RB.  Congenital nystagmus waveforms and foveation strategy . Doc Ophthalmol . 1975;;39:155-182.
21 +
Dell'Osso LF.  Nystagmus, saccadic intrusions/oscillations and oscillopsia . In: Lessel S, van Dalen JTW, eds. Current Neuro-ophthalmology . St Louis, Mo: Mosby—Year Book; 1991;;3:145-183.
22 +
Hainline L, Turkel J, Abramov I, Lemerise E, Harris CM.  Characteristics of saccades in human infants . Vision Res . 1984;;24:1771-1780.
23 +
Harris CM, Hainline L, Abramov I.  A method for calibrating an eye-monitoring system for use with infants . Behav Res Methods Instrum . 1981;; 13:11-17.
24 +
Reinecke RD, Guo S, Goldstein HP.  Waveform evolution in infantile nystagmus: an electro-oculo-graphic study of 35 cases . Binocular Vision . 1988;;3:191-202.
25 +
Finocchio DV, Preston KL, Fuchs AF.  Obtaining a quantitative measure of eye movements in human infants: a method of calibrating the electrooculogram . Vision Res . 1990;;30:1119-1128.
26 +
Shea SL, Aslin RN.  Oculomotor responses to step-ramp targets by young human infants . Vision Res . 1990;;30:1077-1092.
27 +
Chiappa KH, Ropper AH.  Evoked potentials in clinical medicine (first of two parts) . N Engl J Med . 1982;;306:1140-1150.
28 +
Chiappa KH, Ropper AH.  Evoked potentials in clinical medicine (second of two parts) . N Engl J Med . 1982;;306:1205-1211.
29 +
Celesia GG.  Evoked potential techniques in the evaluation of visual function . J Clin Neurophysiol . 1984;;1:55-76.
30 +
Apkarian P. VEP assessment of visual function in pediatric neuro-ophthalmology. In: Albert DM, Jakobeic FA, eds. Principles and Practice of Ophthalmology. Philadelphia, Pa: WB Saunders Co. In press.
31 +
Garg BP, Markland ON, DeMyer WE.  Usefulness of BAER studies in the early diagnosis of Pelizaeus-Merzbacher disease . Neurology . 1983;;33: 955-956.
32 +
Haenggeli CA, Engel E, Pizzolato G.  Connatal Pelizaeus-Merzbacher disease . Dev Med Child Neurol . 1989;;31:797-815.
33 +
Scheffer IE, Baraitser M, Wilson J, Harding B, Kendall B, Brett EM.  Pelizaeus-Merzbacher disease: classical or connatal? Neuropediatrics . 1991;; 22:71-78.
34 +
Ochs R, Markland ON, DeMyer WE.  Brainstem auditory evoked responses in leukodystrophies . Neurology . 1979;;29:1089-1093.
35 +
Markland ON, Garg BP, DeMyer WE, Warren C, Worth RM.  Brain stem auditory, visual and somatosensory evoked potentials in leukodystrophies . Electroencephalogr Clin Neurophysiol . 1982;;54:39-48.
36 +
Wilkus RJ, Farrell DF.  Electrophysiologic observations in the classical form of Pelizaeus-Merzbacher disease . Neurology . 1976;;26:1042-1045.
37 +
Koetsveld-Baart JC, Glaudemans-van Gelderen IE, Valk J, Barth PG. Pelizaeus-Merzbacher: nieuw licht op een vergeten ziekte. Het Ned Geneeskd. Tijdschri Geneeskd. In press.
38 +
Prechtl HFR, Beintema DJ.  The neurological examination of the full-term newborn infant . Clin Dev Med . 1964;;12:.
39 +
Apkarian P, Mirmiran M, Tijssen R.  Effects of behavioural state on visual processing in neonates . Neuropediatrics . 1991;;22:85-91.
40 +
Tweel van der LH.  Pattern evoked potentials: facts and considerations . In: Proceedings of the 16th International Society for Clinical Electrophysiology of Vision Symposium ; 1978;; Morioka, Japan.
41 +
Spekreijse H.  Comparison of acuity tests and pattern evoked potential criteria: two mechanisms underly acuity maturation in man . Behav Brain Res . 1983;;10:107-117.
42 +
Arlt A, Zangemeister WH.  Influence of slow eye movements and nystagmus on pattern induced visual evoked potentials . Neuro-ophthalmology . 1990;;10:241-251.
43 +
Rosenberg ML, Jabbari B.  Nystagmus and visual evoked potentials . Neuro-ophthalmology . 1987;;7:133-138.
44 +
Zubcov AA, Fendick MG, Gottlob I, Wizov S, Reinecke RD.  Pattern appearance-, reversal-, and flash-visual evoked potentials in dissociated vertical deviation . Invest Ophthalmol Vis Sci . 1991;;32( (suppl) ):820.
45 +
Van Sluyters RC, Atkinson J, Banks MS, Held RM, Hoffmann KP, Shatz CJ.  The development of vision and visual perception . In: Spillmann L, Werner JS, eds. Visual Perception: The Neurophysiological Foundations . San Diego, Calif: Academic Press Inc; 1990;:349-379.
46 +
Courage ML, Adams RJ.  Visual acuity assessment from birth to three years using the acuity card procedure: cross-sectional and longitudinal samples . Optom Vis Sci . 1990;;67:713-718.
47 +
Blom JL, Barth PG, Visser SL.  The visual evoked potential in the first six years of life . Electroencephalogr Clin Neurophysiol . 1980;;48:395-405.
48 +
Barnet AB, Friedman SL, Weiss IP, Ohlrich ES, Shanks B, Lodge A.  VEP development in infancy and early childhood: a longitudinal study . Electroencephalogr Clin Neurophysiol . 1980;;49:476-489.
49 +
Apkarian P, Tijssen R.  Temporal frequency responsivity shows multiple maturational phases; state-defined VEP luminance flicker from birth to 8 months . Invest Ophthalmol Vis Sci . 1992;;33( (suppl) ):1351.

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1 +
Journel H, Roussey M, Gandon Y, Allaire C, Carsin M, Marec le B.  Magnetic resonance imaging in Pelizaeus-Merzbacher disease . Neuroradiology . 1987;;29:403-405.
2 +
Penner MW, Li KC, Gebarski SS, Allen RJ.  MR imaging of Pelizaeus-Merzbacher disease . J Comput Assist Tomogr . 1987;;11:591-593.
3 +
Boltshauser E, Schinzel A, Wichmann W, Haller D, Valavanis A.  Pelizaeus-Merzbacher disease: identification of heterozygotes with magnetic resonance imaging? Hum Genet . 1988;;80:393-394.
4 +
Seitelberger F.  Pelizaeus-Merzbacher disease . In: Vinken PJ, Bruyn GW, eds. Handbook of Clinical Neurology . Amsterdam, the Netherlands: North-Holland Publishing Co; 1970;;10:150-202.
5 +
Schneck L, Adachi M, Volk BW.  Congenital failure of myelinization: Pelizaeus-Merzbacher disease? Neurology . 1971;;21:817-824.
6 +
Koeppen AH, Ronca NA, Greenfield EA, Hans MB.  Defective biosynthesis of proteolipid protein in Pelizaeus-Merzbacher disease . Ann Neurol . 1987;;21:159-170.
7 +
Moriguchi A, Ikenaka K, Furuichi T, Okano H, Iwasaki Y, Mikoshiba K.  The fifth exon of the myelin proteolipid protein—coding gene is not utilized in the brain of jimpy mutant mice . Gene . 1987;;55:333-337.
8 +
Willard HF, Riordan JR.  Assignment of the gene for myelin proteolipid protein to the X chromosome: implications for X-linked myelin disorders . Science . 1985;;230:940-942.
9 +
Mattie MG, Alliel PM, Dautigny A, et al.  The gene encoding the major brain proteolipid (PLP) maps on the q-22 band of the human X chromosome . Hum Genet . 1986;;72:352-353.
10 +
Hudson LD, Puckett C, Berndt J, Chan J, Gencic S.  Mutation of the proteolipid protein gene PLP in a human X chromosome—linked myelin disorder . Proc Natl Acad Sci U S A . 1989;;86:8128-8131.
11 +
Trofatter JA, Dlouhy SR, DeMyer W, Conneally PM, Hodes ME.  Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant . Proc Natl Acad Sci U S A . 1989;;86:9427-9430.
12 +
Gencic S, Abuelo D, Ambler M, Hudson LD.  Pelizaeus-Merzbacher disease: an X-linked neurologic disorder of myelin metabolism with a novel mutation in the gene encoding proteolipid protein . Am J Hum Genet . 1989;; 45:435-442.
13 +
Pratt VM, Trofatter JA, Schinzel A, Dlouhy SR, Conneally PM, Hodes ME.  A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease . Am J Med Genet . 1991;;38:136-139.
14 +
Bridge PJ, MacLeod PM, Lillicrap DP.  Carrier detection and prenatal diagnosis of Pelizaeus-Merzbacher disease using a combination of anonymous DNA polymorphisms and the proteolipid protein (PLP) gene cDNA . Am J Med Genet . 1991;;38:616-621.
15 +
Mallinson Al, Longridge NS, Dunn HG, McCormick AQ.  Vestibular studies in Pelizaeus-Merzbacher disease . J Otolaryngol . 1983;;12:361-364.
16 +
Trobe JD, Sharpe JA, Hirsh DK, Gebarski SS.  Nystagmus of Pelizaeus-Merzbacher disease: a magnetic search-coil study . Arch Neurol . 1991;;48:87-91.
17 +
King RA, Nelson LB, Wagner RS.  Spasmus nutans: a benign clinical entity? Arch Ophthalmol . 1986;;104;1501-1504.
18 +
Abel LA.  Ocular oscillations: congenital and acquired . Bull Soc Belge Ophtalmol . 1989;;237:163-189.
19 +
Gottlob I, Zubcov A, Catalano RA, et al.  Signs distinguishing spasmus nutans (with and without central nervous system lesions) from infantile nystagmus . Ophthalmology . 1990;;97:1166-1175.
20 +
Dell'Osso LF, Daroff RB.  Congenital nystagmus waveforms and foveation strategy . Doc Ophthalmol . 1975;;39:155-182.
21 +
Dell'Osso LF.  Nystagmus, saccadic intrusions/oscillations and oscillopsia . In: Lessel S, van Dalen JTW, eds. Current Neuro-ophthalmology . St Louis, Mo: Mosby—Year Book; 1991;;3:145-183.
22 +
Hainline L, Turkel J, Abramov I, Lemerise E, Harris CM.  Characteristics of saccades in human infants . Vision Res . 1984;;24:1771-1780.
23 +
Harris CM, Hainline L, Abramov I.  A method for calibrating an eye-monitoring system for use with infants . Behav Res Methods Instrum . 1981;; 13:11-17.
24 +
Reinecke RD, Guo S, Goldstein HP.  Waveform evolution in infantile nystagmus: an electro-oculo-graphic study of 35 cases . Binocular Vision . 1988;;3:191-202.
25 +
Finocchio DV, Preston KL, Fuchs AF.  Obtaining a quantitative measure of eye movements in human infants: a method of calibrating the electrooculogram . Vision Res . 1990;;30:1119-1128.
26 +
Shea SL, Aslin RN.  Oculomotor responses to step-ramp targets by young human infants . Vision Res . 1990;;30:1077-1092.
27 +
Chiappa KH, Ropper AH.  Evoked potentials in clinical medicine (first of two parts) . N Engl J Med . 1982;;306:1140-1150.
28 +
Chiappa KH, Ropper AH.  Evoked potentials in clinical medicine (second of two parts) . N Engl J Med . 1982;;306:1205-1211.
29 +
Celesia GG.  Evoked potential techniques in the evaluation of visual function . J Clin Neurophysiol . 1984;;1:55-76.
30 +
Apkarian P. VEP assessment of visual function in pediatric neuro-ophthalmology. In: Albert DM, Jakobeic FA, eds. Principles and Practice of Ophthalmology. Philadelphia, Pa: WB Saunders Co. In press.
31 +
Garg BP, Markland ON, DeMyer WE.  Usefulness of BAER studies in the early diagnosis of Pelizaeus-Merzbacher disease . Neurology . 1983;;33: 955-956.
32 +
Haenggeli CA, Engel E, Pizzolato G.  Connatal Pelizaeus-Merzbacher disease . Dev Med Child Neurol . 1989;;31:797-815.
33 +
Scheffer IE, Baraitser M, Wilson J, Harding B, Kendall B, Brett EM.  Pelizaeus-Merzbacher disease: classical or connatal? Neuropediatrics . 1991;; 22:71-78.
34 +
Ochs R, Markland ON, DeMyer WE.  Brainstem auditory evoked responses in leukodystrophies . Neurology . 1979;;29:1089-1093.
35 +
Markland ON, Garg BP, DeMyer WE, Warren C, Worth RM.  Brain stem auditory, visual and somatosensory evoked potentials in leukodystrophies . Electroencephalogr Clin Neurophysiol . 1982;;54:39-48.
36 +
Wilkus RJ, Farrell DF.  Electrophysiologic observations in the classical form of Pelizaeus-Merzbacher disease . Neurology . 1976;;26:1042-1045.
37 +
Koetsveld-Baart JC, Glaudemans-van Gelderen IE, Valk J, Barth PG. Pelizaeus-Merzbacher: nieuw licht op een vergeten ziekte. Het Ned Geneeskd. Tijdschri Geneeskd. In press.
38 +
Prechtl HFR, Beintema DJ.  The neurological examination of the full-term newborn infant . Clin Dev Med . 1964;;12:.
39 +
Apkarian P, Mirmiran M, Tijssen R.  Effects of behavioural state on visual processing in neonates . Neuropediatrics . 1991;;22:85-91.
40 +
Tweel van der LH.  Pattern evoked potentials: facts and considerations . In: Proceedings of the 16th International Society for Clinical Electrophysiology of Vision Symposium ; 1978;; Morioka, Japan.
41 +
Spekreijse H.  Comparison of acuity tests and pattern evoked potential criteria: two mechanisms underly acuity maturation in man . Behav Brain Res . 1983;;10:107-117.
42 +
Arlt A, Zangemeister WH.  Influence of slow eye movements and nystagmus on pattern induced visual evoked potentials . Neuro-ophthalmology . 1990;;10:241-251.
43 +
Rosenberg ML, Jabbari B.  Nystagmus and visual evoked potentials . Neuro-ophthalmology . 1987;;7:133-138.
44 +
Zubcov AA, Fendick MG, Gottlob I, Wizov S, Reinecke RD.  Pattern appearance-, reversal-, and flash-visual evoked potentials in dissociated vertical deviation . Invest Ophthalmol Vis Sci . 1991;;32( (suppl) ):820.
45 +
Van Sluyters RC, Atkinson J, Banks MS, Held RM, Hoffmann KP, Shatz CJ.  The development of vision and visual perception . In: Spillmann L, Werner JS, eds. Visual Perception: The Neurophysiological Foundations . San Diego, Calif: Academic Press Inc; 1990;:349-379.
46 +
Courage ML, Adams RJ.  Visual acuity assessment from birth to three years using the acuity card procedure: cross-sectional and longitudinal samples . Optom Vis Sci . 1990;;67:713-718.
47 +
Blom JL, Barth PG, Visser SL.  The visual evoked potential in the first six years of life . Electroencephalogr Clin Neurophysiol . 1980;;48:395-405.
48 +
Barnet AB, Friedman SL, Weiss IP, Ohlrich ES, Shanks B, Lodge A.  VEP development in infancy and early childhood: a longitudinal study . Electroencephalogr Clin Neurophysiol . 1980;;49:476-489.
49 +
Apkarian P, Tijssen R.  Temporal frequency responsivity shows multiple maturational phases; state-defined VEP luminance flicker from birth to 8 months . Invest Ophthalmol Vis Sci . 1992;;33( (suppl) ):1351.

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