Objective: We present a family with Niemann-Pick disease type C (NPC) expressing Huntington’s disease-like involuntary movements. The process for the diagnosis may be a good candidate as conducting guide for the treatment.

Background: NPC is an autosomal recessive neurodegeneration and is known to have different phenotypes according the period of symptom onset. The patients with adult onset are reported to show mainly psychiatric symptoms and dystonia, apart from the patient with infantile onset with hepatosplenomegaly, and developmental delay. Numerous similar diseases make it difficult to diagnosis with step by step investigation with specific genetic tests.

Method: Patients: The proband is 58 years old. He started psychiatric symptom at 20 and lost words at 35. He showed choreic movement from head to foot from 50 years old. At 57 he got dystonic posture and bed ridden. IMP-SPECT for cerebral blood flow showed selective and profound reduction in frontal lobe without motor area, indicating frontotemporal dementia. His elderly brother had the similar course of the disease and died at 56. Parents of the brothers are unrelated Japanese. White blood cell DNA was extracted from both patients and the parents and applied to the next generation sequencer.

Results: Mutations of NPC1 are c.3557G>A (exon 23), p.Arg1186His, and c.1270C>T (exon 8), p.Pro424Ser as compound heterozygote, each from mother and father of the proband. DNAH7 also mutated causing amino acid change. Filipin test showed classical type staining of NPC and confirmed the diagnosis.

Conclusion: Huntington’s disease-like symptoms, psychiatric symptom and choreic movements followed by dystonia may be a typical phenotype leading NPC and early diagnosis is needed for the effective treatment.

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MDS Abstracts - https://www.mdsabstracts.org/abstract/an-adult-type-niemann-pick-disease-type-c-family-huntingtons-disease-like-expression/