He was able to sit with support by the age of t w o years. Patient was diagnosed as cerebral palsy by various j practitioners and managed unsuccessfully.
Parents noticed tremulous m o v e m e n t of hands which was progressive. Later, at the age of years, he developed stiffness of the limbs which increased gradually. He Reprint requests : Dr. Aneja, Flat No. Hearing was intact. There was hypotrophy of all the muscles of limbs and The patient, a four year old male child was tone was increased in all limbs.
He had born to a primigravida by normal delivery grimacing of the face with abnormal in hospital. The antenatal period was un- athetoid lip and tongue movements. There eventful and birth history was normal. The lower limbs had extensor contrac- of six months when parents noticed abnor- tures. He had intention tremors whenever mal movements of the eyes after a he approached objects.
Power could not be evaluated properly in lower limbs due to contractures. Reflexes were brisk and plantars were extensor.
There was no de- monstrable sensory loss of pinprick,, how- ever, vibration, touch and position sense could not be evaluated. Routine hematological and biochemical investigations were normal. X-ray of hip showed bilateral dislocation of hip joints. CT scan skull was normal. MRI study performed us- ing spino-echo pulse sequences and T1 proton density and T2 weighted serial sec- tions were obtained.
The study revealed Fig. Axial T1MRI of case I showing thinning evidence of a reversal of the grey-white of the subcortical white matter signal intensity on T2 weighed images, suggestive of dysmyelination. The entire white matter was reduced in volume and was hyperintense on T2 images with in- volvement of periventricular and deep white matter.
There was mild thinning of the posterior part of the body of corpus cal- losum. There was prominent hypodensity of basal ganglia and thalami on T2 images suggesting increased deposition of par- magnetic substances.
There was mild bilat- eral T2 hyperintensity involving the white matter tracts within the pons and periaque- ductal white matter. Thetateral, third and fourth ventricles were prominent. These findings were suggestive of Pelizaeus- Fig.
The movements were part of b o d y of corpus callosum and hy- jerky and were present in all directions of pointensity of basal ganglia and thalami. The mother also noticed jerky head Mild bilateral T2 hyperintensity involving movements. Pelizaeus-Merzbacher disease. J Neuropathol Exp Neurol ; 61 : — Genotype-phenotype correlation in inherited brain myelination defects due to proteolipid protein gene mutations.
Eur J Hum Genet ; 8 : — Brain Dev ; 32 : — Myelin proteolipid protein forms a complex with integrins and may participate in integrin receptor signaling in oligodendrocytes. J Neurosci ; 22 : — Myelin proteolipid protein complexes with alphav integrin and AMPA receptors in vivo and regulates AMPA-dependent oligodendrocyte progenitor cell migration through the modulation of cell-surface GluR2 expression.
J Neurosci ; 35 : — J Neurosci ; 31 : — Garbern JY. Pelizaeus-Merzbacher disease: genetic and cellular pathogenesis. Cell Mol Life Sci ; 64 : 50— Yamamoto T, Nanba E.
A novel mutation AT in exon 6 of the proteolipid protein gene associated with connatal Pelizaeus-Merzbacher disease.
Hum Mutat ; 14 : Jimpy msd mouse mutation and connatal Pelizaeus-Merzbacher disease. Am J Med Genet ; 75 : — Download references. We express our gratitude to the patient and his family for their cooperation. You can also search for this author in PubMed Google Scholar. Correspondence to Toshiyuki Yamamoto.
Supplementary Information for this article can be found on the Human Genome Variation website. Reprints and Permissions. Lu, Y. Hum Genome Var 4, Download citation. Those affected with connatal Pelizaeus-Merzbacher disease don't walk or develop effective use of their upper limbs.
Verbal expression is usually severely affected, but comprehension may be significant. Showing of 52 View All. Involuntary, rapid, rhythmic eye movements. Behavioral changes.
Behavioral disorders. Behavioral disturbances. Behavioral problems. Psychiatric disorders. Psychiatric disturbances. Wasting syndrome. Decrease in size of the outer layer of the brain due to loss of brain cells. Loss of developmental milestones. Mental deterioration in childhood.
Faltering weight in infancy. Weight faltering in infancy. Abnormal gait. Abnormal walk. Impaired gait. Stiff joint. Stiff joints. Hunched back. Round back. Low or weak muscle tone. Premature delivery of affected infants. Preterm delivery. Signs and symptoms worsen slowly with time.
Involuntary muscle stiffness, contraction, or spasm. Impaired vision. Loss of eyesight. Poor vision. Urinary tract abnormalities. Urinary tract abnormality. Urinary tract anomalies. Loss of bowel control. Deficiency of speech development. Delayed language development. Delayed speech. Delayed speech acquisition. Delayed speech development. Impaired speech and language development.
Impaired speech development. Language delay. Language delayed. Language development deficit. Late-onset speech development. Poor language development. Speech and language delay. Speech and language difficulties. Speech delay. Difficulty articulating speech. Poor swallowing. Swallowing difficulties. Swallowing difficulty. Faltering weight. Weight faltering. Hearing defect. Mental deficiency. Mental retardation.
Mental retardation, nonspecific. Abnormally small skull. Decreased circumference of cranium. Decreased size of skull.
Reduced head circumference. Paul, Minnesota K. Pelizaeus-Merzbacher disease PMD is an ease-causing mutations is not in itself surprising since X-linked dysmyelinating disorder of the PLP is highly conserved. For PMD, there does not ap- central nervous system. Many cases of PMD pear to have been a founder effect involving one or even can be attributed to defects in the proteo- a few common mutations, rather, most cases involve lipid protein gene PLP. To date, with one mutations that probably arise de novo within a family exception, each family has had either no or and hence are family-specific.
However, since X-linked a unique mutation in one of the seven exons recessive mutations may be passed undetected through of PLP. We describe a new missense muta- females, and because usually only a limited number of tion in exon 2 of the PLP gene of an affected generations is available for analysis in any given fam- individual.
This mutation codes for Ile in- ily, documentation of de novo mutation is often not pos- stead of Thr at codon The point mutation sible. A similar finding in PMD caused by a TyrCys originated in the X chromosome of the ma- mutation was reported in abstract form by Bridge et al. Single nucleotide ease, de novo mutation primer extension SNuPE was performed a s described previously [Pratt et al.
The amplification procedure used was modified ease PMD , a n X-linked dysmyelinating disorder from Weber and May []. The 10 pl volume poly- manifesting as onset of nystagmus soon after birth, merase chain reaction PCR mixture contained titubation, psychomotor delay, and early death.
After amplification, 8 p1 of sequencing February 9, Hodes, Department of bromophenol blue, 0. Walnut St. Gels were dried and exposed t o film overnight. His clinical picture included inspiratory stridor, failure to thrive, nystagmus, spasticity, joint contractures, and scoliosis. Autopsy Fig.
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