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Hypomyelinating leukodystrophy 4

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Prevalence of clinical parameters (%)

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Pubmed id number as a reference Organ system affected
Number of patients in the reference Percent affected patients (Between 0 and 1, eg. 0.1 = 10%)
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List of symptoms

Symptom/sign Organ system Percent affected Pubmed id Added on(yyyy-mm-dd) Edit/add reference
No head control nervous 100 % 18571143 2014-10-11
Head titubation nervous 100 % 18571143 2014-10-11
Hypotonia nervous 100 % 18571143 2014-10-11
Spasticity nervous 100 % 18571143 2014-10-11
Hyperactive reflexes nervous 100 % 18571143 2014-10-11
Babinski's sign nervous 100 % 18571143 2014-10-11
Strabismus nervous 100 % 18571143 2014-10-11
Psychomotor retardation nervous 100 % 18571143 2014-10-11
Exacerbation during febrile episodes lymphatic 100 % 18571143 2014-10-11
Hypomyelination nervous 100 % 18571143 2014-10-11
Leukodystrophy nervous 100 % 18571143 2014-10-11
Abnormal brain stem function nervous 100 % 18571143 2014-10-11
Nystagmus nervous 90 % 18571143 2014-10-11
Ethylmalonic aciduria urinary 63 % 18571143 2014-10-11
Seizures nervous 60 % 18571143 2014-10-11
Apnea respiratory 60 % 18571143 2014-10-11
Lactate accumulation circulatory 40 % 18571143 2014-10-11

List of references:

Mitochondrial hsp60 chaperonopathy causes an autosomal-recessive neurodegenerative disorder linked to brain hypomyelination and leukodystrophy.
Daniella Magen, Costa Georgopoulos, Peter Bross, Debbie Ang, Yardena Segev, Dorit Goldsher, Alexandra Nemirovski, Eli Shahar, Sarit Ravid, Anthony Luder, Bayan Heno, Ruth Gershoni-Baruch, Karl Skorecki, Hanna Mandel,

Hypomyelinating leukodystrophies (HMLs) are disorders involving aberrant myelin formation. The prototype of primary HMLs is the X-linked Pelizaeus-Merzbacher disease (PMD) caused by mutations in PLP1. Recently, homozygous mutations in GJA12 encoding connexin 47 were found in patients with autosomal-recessive Pelizaeus-Merzbacher-like disease (PMLD). However, many patients of both genders with PMLD carry neither PLP1 nor GJA12 mutations. We report a consanguineous Israeli Bedouin kindred with clinical and radiological findings compatible with PMLD, in which linkage to PLP1 and GJA12 was excluded. Using homozygosity mapping and mutation analysis, we have identified a homozygous missense mutation (D29G) not previously described in HSPD1, encoding the mitochondrial heat-shock protein 60 (Hsp60) in all affected individuals. The D29G mutation completely segregates with the disease-associated phenotype. The pathogenic effect of D29G on Hsp60-chaperonin activity was verified by an in vivo E. coli complementation assay, which demonstrated compromised ability of the D29G-Hsp60 mutant protein to support E. coli survival, especially at high temperatures. The disorder, which we have termed MitCHAP-60 disease, can be distinguished from spastic paraplegia 13 (SPG13), another Hsp60-associated autosomal-dominant neurodegenerative disorder, by its autosomal-recessive inheritance pattern, as well as by its early-onset, profound cerebral involvement and lethality. Our findings suggest that Hsp60 defects can cause neurodegenerative pathologies of varying severity, not previously suspected on the basis of the SPG13 phenotype. These findings should help to clarify the important role of Hsp60 in myelinogenesis and neurodegeneration.

American journal of human genetics - Jul 2008

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