title: Parkinsonism in a pair of monozygotic CADASIL twins sharing the R1006C mutation: a transcranial sonography study.
abstract: Cerebral autosomal dominant arteriopathy with subcortical infarcts and leukoencephalopathy (CADASIL), the most common hereditary cerebral small vessel disease, is caused by mutations in the NOTCH3 gene on chromosome 19. Clinical manifestations of CADASIL include recurrent transient ischemic attacks, strokes, cognitive defects, epilepsy, migraine and psychiatric symptoms. Parkinsonian features have variably been reported in CADASIL patients, but only a few patients showed a clear parkinsonian syndrome. We studied two patients, a pair of monozygotic twins, carrying the R1006C mutation of the NOTCH3 gene and affected by a parkinsonian syndrome. For the first time in CADASIL patients, we used transcranial sonography (TCS) to assess basal ganglia abnormalities. TCS showed a bilateral hyperechogenic pattern of substantia nigra in one twin, and a right hyperechogenic pattern in the other. In both patients, lenticular nuclei showed a bilateral hyperechogenic pattern, and the width of the third ventricle was slightly increased. The TCS pattern found in our CADASIL patients is characteristic neither for Parkinson's disease, nor for vascular parkinsonism and seems to be specific and related to the disease-specific pathological features.
authors: Division of Neurology, Madonna del Soccorso Hospital, AV5, San Benedetto del Tronto, Italy. michele.ragno@sanita.marche.it.
authors: Michele
authors: M
authors: Ragno
authors: Division of Neurology, Madonna del Soccorso Hospital, AV5, San Benedetto del Tronto, Italy.
authors: Sandro
authors: S
authors: Sanguigni
authors: Department of Radiology, Italian National Research Center of Aging INRCA, Ancona, Italy.
authors: Antonio
authors: A
authors: Manca
authors: Molecular Medicine Laboratory, Mazzoni Hospital, AV5, Ascoli Piceno, Italy.
authors: Luigi
authors: L
authors: Pianese
authors: Division of Neurology, Madonna del Soccorso Hospital, AV5, San Benedetto del Tronto, Italy.
authors: Cristina
authors: C
authors: Paci
authors: Nuclear Medicine Department, Mazzoni Hospital, AV5, Ascoli Piceno, Italy.
authors: Alfonso
authors: A
authors: Berbellini
authors: Molecular Medicine Laboratory, Mazzoni Hospital, AV5, Ascoli Piceno, Italy.
authors: Valeria
authors: V
authors: Cozzolino
authors: Division of Neurology, Madonna del Soccorso Hospital, AV5, San Benedetto del Tronto, Italy.
authors: Roberto
authors: R
authors: Gobbato
authors: Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
authors: Silvio
authors: S
authors: Peluso
authors: Department of Neurosciences and Reproductive and Odontostomatological Sciences, Federico II University, Naples, Italy.
authors: Giuseppe
authors: G
authors: De Michele
mesh_terms: D000368:Aged; D001120:Arginine / Q000235:genetics; D046589:CADASIL / Q000150:complications / Q000000981:diagnostic imaging* / Q000235:genetics; D003545:Cysteine / Q000235:genetics; D006801:Humans; D008297:Male; D009154:Mutation / Q000235:genetics*; D010300:Parkinson Disease / Q000150:complications / Q000000981:diagnostic imaging / Q000235:genetics; D000071656:Receptor, Notch3 / Q000235:genetics*; D014430:Twins, Monozygotic; D017585:Ultrasonography, Doppler, Transcranial / Q000379:methods*
chemical_list: D000071656:Receptor, Notch3; D001120:Arginine; D003545:Cysteine
keywords: CADASIL; Monozygotic twins; Parkinsonism; Transcranial sonography