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Delayed somatosensory central conduction time

MedGen UID:
867773
Concept ID:
C4022163
Pathologic Function
Synonym: Abnormality of central somatosensory evoked potentials
 
HPO: HP:0100291

Definition

An abnormal increase (delay) in the somatosensory central conduction time (CCT), which can be measured from the peak of N13 to the peak of N20 (peak CCT) or from the onset of N11 to the onset of N20 (onset CCT). [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDelayed somatosensory central conduction time

Conditions with this feature

Cholestanol storage disease
MedGen UID:
116041
Concept ID:
C0238052
Disease or Syndrome
Cerebrotendinous xanthomatosis (CTX) is a lipid storage disease characterized by infantile-onset diarrhea, childhood-onset cataract, adolescent- to young adult-onset tendon xanthomas, and adult-onset progressive neurologic dysfunction (dementia, psychiatric disturbances, pyramidal and/or cerebellar signs, dystonia, atypical parkinsonism, peripheral neuropathy, and seizures). Chronic diarrhea from infancy and/or neonatal cholestasis may be the earliest clinical manifestation. In approximately 75% of affected individuals, cataracts are the first finding, often appearing in the first decade of life. Xanthomas appear in the second or third decade; they occur on the Achilles tendon, the extensor tendons of the elbow and hand, the patellar tendon, and the neck tendons. Xanthomas have been reported in the lung, bones, and central nervous system. Some individuals show cognitive impairment from early infancy, whereas the majority have normal or only slightly impaired intellectual function until puberty; dementia with slow deterioration in intellectual abilities occurs in the third decade in more than 50% of individuals. Neuropsychiatric symptoms such as behavioral changes, hallucinations, agitation, aggression, depression, and suicide attempts may be prominent. Pyramidal signs (i.e., spasticity) and/or cerebellar signs almost invariably become evident between ages 20 and 30 years. The biochemical abnormalities that distinguish CTX from other conditions with xanthomas include high plasma and tissue cholestanol concentration, normal-to-low plasma cholesterol concentration, decreased chenodeoxycholic acid (CDCA), increased concentration of bile alcohols and their glyconjugates, and increased concentrations of cholestanol and apolipoprotein B in cerebrospinal fluid.
Familial isolated deficiency of vitamin E
MedGen UID:
341248
Concept ID:
C1848533
Disease or Syndrome
Ataxia with vitamin E deficiency (AVED) generally manifests in late childhood or early teens between ages five and 15 years. The first symptoms include progressive ataxia, clumsiness of the hands, loss of proprioception, and areflexia. Other features often observed are dysdiadochokinesia, dysarthria, positive Romberg sign, head titubation, decreased visual acuity, and positive Babinski sign. The phenotype and disease severity vary widely among families with different pathogenic variants; age of onset and disease course are more uniform within a given family, but symptoms and disease severity can vary even among sibs.
Amyotrophic lateral sclerosis type 2, juvenile
MedGen UID:
349246
Concept ID:
C1859807
Disease or Syndrome
ALS2-related disorder involves retrograde degeneration of the upper motor neurons of the pyramidal tracts and comprises a clinical continuum of the following three phenotypes: Infantile ascending hereditary spastic paraplegia (IAHSP), characterized by onset of spasticity with increased reflexes and sustained clonus of the lower limbs within the first two years of life, progressive weakness and spasticity of the upper limbs by age seven to eight years, and wheelchair dependence in the second decade with progression toward severe spastic tetraparesis and a pseudobulbar syndrome caused by progressive cranial nerve involvement. Juvenile primary lateral sclerosis (JPLS), characterized by upper motor neuron findings of pseudobulbar palsy and spastic quadriplegia without dementia or cerebellar, extrapyramidal, or sensory signs. Juvenile amyotrophic lateral sclerosis (JALS or ALS2), characterized by onset between ages three and 20 years. All affected individuals show a spastic pseudobulbar syndrome (spasticity of speech and swallowing) together with spastic paraplegia. Some individuals are bedridden by age 12 to 50 years.
Hypomyelination and Congenital Cataract
MedGen UID:
501134
Concept ID:
C1864663
Congenital Abnormality
Hypomyelination and congenital cataract (HCC) is usually characterized by bilateral congenital cataracts and normal psychomotor or only mildly delayed development in the first year of life, followed by slowly progressive neurologic impairment manifest as ataxia, spasticity (brisk tendon reflexes and bilateral extensor plantar responses), and mild-to-moderate cognitive impairment. Dysarthria and truncal hypotonia are observed. Cerebellar signs (truncal titubation and intention tremor) and peripheral neuropathy (muscle weakness and wasting of the legs) are present in the majority of affected individuals. Seizures can occur. Cataracts may be absent in some individuals.

Recent clinical studies

Etiology

Coulthard P, Kushnerev E, Yates JM, Walsh T, Patel N, Bailey E, Renton TF
Cochrane Database Syst Rev 2014 Apr 16;2014(4):CD005293. doi: 10.1002/14651858.CD005293.pub2. PMID: 24740534Free PMC Article
Seo CH, Jang KU, Lee BC, Choi IG, Kim JH, Chun W, Jeong JH, Kang TC
Burns 2011 Jun;37(4):687-91. Epub 2011 Feb 22 doi: 10.1016/j.burns.2011.01.025. PMID: 21334825
Szabó S, Mikó L, Novák L, Rózsa L, Székely G Jr
Neurosurg Rev 1997;20(3):188-95. doi: 10.1007/BF01105563. PMID: 9297721
Chu NS, Yang SS
Alcohol 1987 Jul-Aug;4(4):225-30. doi: 10.1016/0741-8329(87)90016-4. PMID: 3620089
Parmelee AH
Biol Psychiatry 1975 Oct;10(5):501-12. PMID: 1101974

Diagnosis

Sharma A, Campbell J, Cardon G
Int J Psychophysiol 2015 Feb;95(2):135-44. Epub 2014 Apr 26 doi: 10.1016/j.ijpsycho.2014.04.007. PMID: 24780192Free PMC Article
Seo CH, Jang KU, Lee BC, Choi IG, Kim JH, Chun W, Jeong JH, Kang TC
Burns 2011 Jun;37(4):687-91. Epub 2011 Feb 22 doi: 10.1016/j.burns.2011.01.025. PMID: 21334825
Matsumoto H, Hanajima R, Terao Y, Hamada M, Yugeta A, Shirota Y, Yuasa K, Sato F, Matsukawa T, Takahashi Y, Goto J, Tsuji S, Ugawa Y
Clin Neurol Neurosurg 2010 Feb;112(2):131-6. Epub 2009 Dec 5 doi: 10.1016/j.clineuro.2009.11.005. PMID: 19963315
Hume AL, Durkin MA
Electroencephalogr Clin Neurophysiol 1986 Jan;65(1):46-58. doi: 10.1016/0168-5597(86)90036-5. PMID: 2416546
Ganes T
Electroencephalogr Clin Neurophysiol 1980 Sep;49(5-6):446-51. doi: 10.1016/0013-4694(80)90387-9. PMID: 6158426

Therapy

Coulthard P, Kushnerev E, Yates JM, Walsh T, Patel N, Bailey E, Renton TF
Cochrane Database Syst Rev 2014 Apr 16;2014(4):CD005293. doi: 10.1002/14651858.CD005293.pub2. PMID: 24740534Free PMC Article
Wang L, Liu YH, Xu Y, Yin W, Huang YG
Neurotoxicology 2009 Nov;30(6):1084-7. Epub 2009 Jul 1 doi: 10.1016/j.neuro.2009.06.006. PMID: 19576241
Khedr EM, Rashad SM, Hamed SA, El-Zharaa F, Abdalla AK
Rheumatol Int 2009 Jul;29(9):1031-40. Epub 2009 Jan 20 doi: 10.1007/s00296-009-0841-7. PMID: 19153738
Bugnariu N, Fung J
J Neuroeng Rehabil 2007 Jun 20;4:19. doi: 10.1186/1743-0003-4-19. PMID: 17584501Free PMC Article
Mauguière F, Chauvel P, Dewailly J, Dousse N
Epilepsia 1997 Mar;38(3):301-8. doi: 10.1111/j.1528-1157.1997.tb01121.x. PMID: 9070592

Prognosis

Sharma A, Campbell J, Cardon G
Int J Psychophysiol 2015 Feb;95(2):135-44. Epub 2014 Apr 26 doi: 10.1016/j.ijpsycho.2014.04.007. PMID: 24780192Free PMC Article
Szabó S, Mikó L, Novák L, Rózsa L, Székely G Jr
Neurosurg Rev 1997;20(3):188-95. doi: 10.1007/BF01105563. PMID: 9297721
Mauguière F, Chauvel P, Dewailly J, Dousse N
Epilepsia 1997 Mar;38(3):301-8. doi: 10.1111/j.1528-1157.1997.tb01121.x. PMID: 9070592
Facco E, Caputo P, Fiore D, Giron GP
Electroencephalogr Clin Neurophysiol 1989 Dec;73(6):552-6. doi: 10.1016/0013-4694(89)90265-4. PMID: 2480890
Yang SS, Chu NS, Liaw YF
Gastroenterology 1985 Sep;89(3):625-30. doi: 10.1016/0016-5085(85)90460-3. PMID: 2991070

Clinical prediction guides

Matsumoto H, Hanajima R, Terao Y, Hamada M, Yugeta A, Shirota Y, Yuasa K, Sato F, Matsukawa T, Takahashi Y, Goto J, Tsuji S, Ugawa Y
Clin Neurol Neurosurg 2010 Feb;112(2):131-6. Epub 2009 Dec 5 doi: 10.1016/j.clineuro.2009.11.005. PMID: 19963315
Khedr EM, Rashad SM, Hamed SA, El-Zharaa F, Abdalla AK
Rheumatol Int 2009 Jul;29(9):1031-40. Epub 2009 Jan 20 doi: 10.1007/s00296-009-0841-7. PMID: 19153738
Stetkarova I, Kofler M
Spine (Phila Pa 1976) 2009 Jan 1;34(1):34-42. doi: 10.1097/BRS.0b013e31818f8be3. PMID: 19127160
Szabó S, Mikó L, Novák L, Rózsa L, Székely G Jr
Neurosurg Rev 1997;20(3):188-95. doi: 10.1007/BF01105563. PMID: 9297721
Hume AL, Durkin MA
Electroencephalogr Clin Neurophysiol 1986 Jan;65(1):46-58. doi: 10.1016/0168-5597(86)90036-5. PMID: 2416546

Recent systematic reviews

Coulthard P, Kushnerev E, Yates JM, Walsh T, Patel N, Bailey E, Renton TF
Cochrane Database Syst Rev 2014 Apr 16;2014(4):CD005293. doi: 10.1002/14651858.CD005293.pub2. PMID: 24740534Free PMC Article

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