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Sterol carrier protein 2 deficiency(LKDMN)

MedGen UID:
462340
Concept ID:
C3150990
Disease or Syndrome
Synonym: Leukoencephalopathy with dystonia and motor neuropathy
SNOMED CT: SCPX (sterol carrier protein X) deficiency (1296861002); Sterol carrier protein-2 deficiency (1296861002); Sterol carrier protein X deficiency (1296861002); Deficiency of sterol carrier protein X (1296861002); SCPx (sterol carrier protein x) deficiency (1296861002)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
Concept ID:
C0441748
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
 
Gene (location): SCP2 (1p32.3)
 
Monarch Initiative: MONDO:0013391
OMIM®: 613724
Orphanet: ORPHA163684

Definition

Leukoencephalopathy-dystonia-motor neuropathy syndrome is a peroxisomal neurodegenerative disorder characterized by spasmodic torticollis, dystonic head tremor, intention tremor, nystagmus, hyposmia, and hypergonadotrophic hypogonadism with azoospermia. Slight cerebellar signs (left-sided intention tremor, balance and gait impairment) are also noted. Magnetic resonance imaging (MRI) shows bilateral hyperintense signals in the thalamus, butterfly-like lesions in the pons, and lesions in the occipital region, whereas nerve conduction studies of the lower extremities shows a predominantly motor and slight sensory neuropathy. [from ORDO]

Clinical features

From HPO
Azoospermia
MedGen UID:
2150
Concept ID:
C0004509
Disease or Syndrome
Absence of any measurable level of sperm,whereby spermatozoa cannot be observed even after centrifugation of the semen pellet.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Dystonic disorder
MedGen UID:
3940
Concept ID:
C0013421
Sign or Symptom
An abnormally increased muscular tone that causes fixed abnormal postures. There is a slow, intermittent twisting motion that leads to exaggerated turning and posture of the extremities and trunk.
Peripheral neuropathy
MedGen UID:
18386
Concept ID:
C0031117
Disease or Syndrome
Peripheral neuropathy is a general term for any disorder of the peripheral nervous system. The main clinical features used to classify peripheral neuropathy are distribution, type (mainly demyelinating versus mainly axonal), duration, and course.
Torticollis
MedGen UID:
11859
Concept ID:
C0040485
Sign or Symptom
Torticollis is a twisted neck as a result of shortening of sternocleidomastoid muscle. This short and fibrotic muscle pulls the head laterally and rotates the chin and face to the opposite end. Facial asymmetry may be a manifestation (summary by Engin et al., 1997).
Head tremor
MedGen UID:
68690
Concept ID:
C0239882
Finding
An unintentional, oscillating to-and-fro muscle movement affecting head movement.
Leukoencephalopathy
MedGen UID:
78722
Concept ID:
C0270612
Disease or Syndrome
This term describes abnormality of the white matter of the cerebrum resulting from damage to the myelin sheaths of nerve cells.
Impaired vibratory sensation
MedGen UID:
220959
Concept ID:
C1295585
Finding
A decrease in the ability to perceive vibration. Clinically, this is usually tested with a tuning fork which vibrates at 128 Hz and is applied to bony prominences such as the malleoli at the ankles or the metacarpal-phalangeal joints. There is a slow decay of vibration from the tuning fork. The degree of vibratory sense loss can be crudely estimated by counting the number of seconds that the examiner can perceive the vibration longer than the patient.
Decreased motor nerve conduction velocity
MedGen UID:
388130
Concept ID:
C1858729
Finding
A type of decreased nerve conduction velocity that affects the motor neuron.
Hyposmia
MedGen UID:
473584
Concept ID:
C2364082
Finding
A decreased sensitivity to odorants (that is, a decreased ability to perceive odors).
Focal T2 hyperintense thalamic lesion
MedGen UID:
868380
Concept ID:
C4022774
Finding
A lighter than expected T2 signal on magnetic resonance imaging (MRI) of the thalamus. This term refers to a localized hyperintensity affecting a particular region of the thalamus.
Intention tremor
MedGen UID:
1642960
Concept ID:
C4551520
Sign or Symptom
A type of kinetic tremor that occurs during target directed movement is called intention tremor. That is, an oscillatory cerebellar ataxia that tends to be absent when the limbs are inactive and during the first part of voluntary movement but worsening as the movement continues and greater precision is required (e.g., in touching a target such as the patient's nose or a physician's finger).
Elevated circulating pristanic acid concentration
MedGen UID:
1841839
Concept ID:
C5826613
Finding
Concentration of pristanic acid in the blood circulation above the upper limit of normal.
Hypergonadotropic hypogonadism
MedGen UID:
184926
Concept ID:
C0948896
Disease or Syndrome
Reduced function of the gonads (testes in males or ovaries in females) associated with excess pituitary gonadotropin secretion and resulting in delayed sexual development and growth delay.
Slow saccadic eye movements
MedGen UID:
232942
Concept ID:
C1321329
Finding
An abnormally slow velocity of the saccadic eye movements.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVSterol carrier protein 2 deficiency
Follow this link to review classifications for Sterol carrier protein 2 deficiency in Orphanet.

Professional guidelines

PubMed

Ferdinandusse S, Ylianttila MS, Gloerich J, Koski MK, Oostheim W, Waterham HR, Hiltunen JK, Wanders RJ, Glumoff T
Am J Hum Genet 2006 Jan;78(1):112-24. Epub 2005 Nov 15 doi: 10.1086/498880. PMID: 16385454Free PMC Article

Recent clinical studies

Etiology

Moser AB, Hey J, Dranchak PK, Karaman MW, Zhao J, Cox LA, Ryder OA, Hacia JG
Lipids Health Dis 2013 Feb 4;12:10. doi: 10.1186/1476-511X-12-10. PMID: 23379307Free PMC Article
Mukherji M, Kershaw NJ, Schofield CJ, Wierzbicki AS, Lloyd MD
Chem Biol 2002 May;9(5):597-605. doi: 10.1016/s1074-5521(02)00139-4. PMID: 12031666
Krisans SK
Ann N Y Acad Sci 1996 Dec 27;804:142-64. doi: 10.1111/j.1749-6632.1996.tb18614.x. PMID: 8993542
Krisans SK
Am J Respir Cell Mol Biol 1992 Oct;7(4):358-64. doi: 10.1165/ajrcmb/7.4.358. PMID: 1356376
Suzuki Y, Yamaguchi S, Orii T, Tsuneoka M, Tashiro Y
Cell Struct Funct 1990 Oct;15(5):301-8. doi: 10.1247/csf.15.301. PMID: 2085845

Diagnosis

D'Amico A, Bertini E
Handb Clin Neurol 2013;113:1437-55. doi: 10.1016/B978-0-444-59565-2.00013-7. PMID: 23622366
Ferdinandusse S, Kostopoulos P, Denis S, Rusch H, Overmars H, Dillmann U, Reith W, Haas D, Wanders RJ, Duran M, Marziniak M
Am J Hum Genet 2006 Jun;78(6):1046-52. Epub 2006 Mar 29 doi: 10.1086/503921. PMID: 16685654Free PMC Article
Wierzbicki AS, Lloyd MD, Schofield CJ, Feher MD, Gibberd FB
J Neurochem 2002 Mar;80(5):727-35. doi: 10.1046/j.0022-3042.2002.00766.x. PMID: 11948235
Ferdinandusse S, Denis S, van Berkel E, Dacremont G, Wanders RJ
J Lipid Res 2000 Mar;41(3):336-42. PMID: 10706581

Prognosis

Moser AB, Hey J, Dranchak PK, Karaman MW, Zhao J, Cox LA, Ryder OA, Hacia JG
Lipids Health Dis 2013 Feb 4;12:10. doi: 10.1186/1476-511X-12-10. PMID: 23379307Free PMC Article
Ferdinandusse S, Ylianttila MS, Gloerich J, Koski MK, Oostheim W, Waterham HR, Hiltunen JK, Wanders RJ, Glumoff T
Am J Hum Genet 2006 Jan;78(1):112-24. Epub 2005 Nov 15 doi: 10.1086/498880. PMID: 16385454Free PMC Article
Puglielli L, Rigotti A, Greco AV, Santos MJ, Nervi F
J Biol Chem 1995 Aug 11;270(32):18723-6. doi: 10.1074/jbc.270.32.18723. PMID: 7642518

Clinical prediction guides

Moser AB, Hey J, Dranchak PK, Karaman MW, Zhao J, Cox LA, Ryder OA, Hacia JG
Lipids Health Dis 2013 Feb 4;12:10. doi: 10.1186/1476-511X-12-10. PMID: 23379307Free PMC Article
Ferdinandusse S, Ylianttila MS, Gloerich J, Koski MK, Oostheim W, Waterham HR, Hiltunen JK, Wanders RJ, Glumoff T
Am J Hum Genet 2006 Jan;78(1):112-24. Epub 2005 Nov 15 doi: 10.1086/498880. PMID: 16385454Free PMC Article
Mukherji M, Kershaw NJ, Schofield CJ, Wierzbicki AS, Lloyd MD
Chem Biol 2002 May;9(5):597-605. doi: 10.1016/s1074-5521(02)00139-4. PMID: 12031666
Mendis-Handagama SM
Histol Histopathol 1997 Jul;12(3):869-82. PMID: 9225169
Burns CP, Welshman IR, Scallen TJ, Spector AA
Biochim Biophys Acta 1982 Dec 13;713(3):519-28. doi: 10.1016/0005-2760(82)90312-5. PMID: 7150625

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