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Pantothenate Kinase-Associated Neurodegeneration Mimicking Tourette Syndrome: a Case Report and Review of the Literature

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Pantothenate Kinase-Associated Neurodegeneration Mimicking Tourette Syndrome: a Case Report and Review of the Literature Neurological Sciences (2018) 39:1797–1800 https://doi.org/10.1007/s10072-018-3472-5 LETTER TO THE EDITOR Pantothenate kinase-associated neurodegeneration mimicking Tourette syndrome: a case report and review of the literature Mohammad Rohani1 & Alfonso Fasano2,3,4 & Anthony E. Lang2,3,4 & Babak Zamani5 & Leila Javanparast6 & Mohammad-Masoud Rahimi Bidgoli6 & Afagh Alavi6 Received: 16 February 2018 /Accepted: 7 June 2018 /Published online: 21 June 2018 # Springer-Verlag Italia S.r.l., part of Springer Nature 2018 Introduction PKAN is an autosomal recessive neurodegenerative dis- order caused by mutations in the PANK2 gene [7]. The Tourette syndrome is a common neurobehavioral disorder, gene encodes an enzyme named pantothenate kinase 2 that characterized by motor and phonic tics and various behav- is activated in the mitochondria and plays an important role ioral problems including attention deficit hyperactivity in the coenzyme A (CoA) biosynthesis which is essential disorder (ADHD) and obsessive-compulsive disorder for production of cellular energy and lipid metabolism. (OCD) [1]. Affected individuals manifest an abnormal iron accumula- There is a long list of diseases causing tics and Tourettism. tion in globus pallidus and the substantia nigra that leads to Huntington’s disease and neuroacanthocytosis are among the Beye-of-the-tiger^ sign on magnetic resonance imaging most important neurodegenerative etiologies [1]. There are (MRI) [7]. few case reports of neurodegeneration with brain iron accu- Herein, we report a case of genetically proven PKAN with mulation (NBIA) due to presumed or genetically confirmed Tourettism as the main clinical feature. pantothenate kinase-associated neurodegeneration (PKAN) presenting with tics and Tourettism [2–6]. Case Electronic supplementary material The online version of this article A 13-year-old boy came to our attention due to severe (https://doi.org/10.1007/s10072-018-3472-5) contains supplementary motor tics. His parents were first cousins and he was the material, which is available to authorized users. only child. According to his mother, he had a normal de- livery and normal motor milestones but he had stuttering * Afagh Alavi and ADHD since early childhood. Family history for tics, [email protected]; [email protected] OCD, and other movement disorders was negative but his 1 Hazrat Rasool Hospital, Iran University of Medical Sciences, mother had history of ADHD. He was receiving methyl- Tehran, Iran phenidate for ADHD when motor tics began at the age 10. 2 Edmond J. Safra Program in Parkinson’s Disease, Morton and Gloria He also developed obsessive and compulsive behavior at Shulman Movement Disorders Clinic, Toronto Western Hospital, age 12. Rarely, he uttered inappropriate words (coprolalia) University Health Network, Toronto, Ontario, Canada without other phonic tics. He had complex motor tics such 3 Division of Neurology, Department of Medicine, University of as touching and rubbing objects surrounding him. There Toronto, Toronto, Ontario, Canada was no history of seizures. 4 Krembil Research Institute, Toronto, Ontario, Canada At the time of his first assessment, he was taking risper- 5 Department of Neurology, Firoozgar Hospital, Iran University of idone for the tics. On examination, his speech was normal. Medical Sciences, Tehran, Iran He had complex motor tics (rubbing the eyes and touching 6 Genetics Research Center, University of Social Welfare and face and head, neck flexion and extension) (Video 1). On Rehabilitation Sciences, Kodakyar Ave., Daneshjo Blvd., Evin, walking, there was mild dystonic posture of the toes, more P.O.BOX: 1985713834, Tehran, Iran severe on the right side (Video 2). The remainder of his 1798 Neurol Sci (2018) 39:1797–1800 neurologic examination was normal. Brain MRI revealed clinical features, tics and Tourettism have rarely been re- typical eye of the tiger sign (Fig. 1). ported: to the best of our knowledge, there are only eight Although the clinical features were not typical of cases of PKAN and tics (Table 1)[2–6]. All of them were PKAN, the MRI findings encouraged us for PANK2 mu- atypical forms of PKAN. Six patients were male and two tation screening. The seven exons of PANK 2 were ampli- were female. Six out of the eight were genetically con- fied by polymerase chain reaction (PCR) and sequenced firmed with mutations in the PANK2 gene different from using ABI Big Dye terminator chemistry (Applied the one we detected in our case; the other two patients Biosystems, Foster City, CA). A homozygous missense were diagnosed clinically. All patients had eye of the tiger mutation, c.G833T, p.Arg278Leu, was detected in the sign on brain MRI. Seven patients had both motor and PANK 2 gene. The damaging effect of the observed varia- phonic tics, one had only motor tics. In three patients, tics tion on the encoded protein was predicted using nine dif- were the first presentation of the disease. Six patients had ferent software packages (Supplementary Table 1 and OCD and one had ADHD in addition to tics. All cases Supplementary Fig. 1). developed other movement disorders at presentation or during the disease course, the most prominent being dystonia. Discussion Our case is unique since tics were the most prominent symptom and were accompanied by OCD and ADHD, as NBIAs comprise a rare group of neurologic disorders de- reported in only one previous case [2]. termined by iron accumulation in the basal ganglia. Among the other NBIA syndromes, we found one case PKAN is the most common form of NBIA diseases report of neuroferritinopathy with facial tics/stereotypies. causes by mutations in PANK2 gene. This has not been The patient was a 49-year-old man with a 2-year history of cleared how mutations in PANK 2 result in abnormal iron facial tics and vocalizations which were responsive to accumulation in the basal ganglia and specific features of tetrabenazine [8]. the disease. It has been suggested PAN K2 mutant protein We should acknowledge here that Tourette syndrome is fails to fold properly and exhibits no enzymatic activity a common movement disorder so it is possible that this that leads to a lack of CoA biosynthesis and subsequent- case simply represents the coincidental association of a ly, an accumulation of free cysteine. This cysteine can rare disease (PKAN) with a far more common disease chelate iron. Iron is highly reactive and may produce (Tourette syndrome). On the other hand, studies show neu- reactive oxygen species (ROS) that are destructive for ronal dysfunction in globus pallidus as a unit of cortico- lipid metabolism and may results in ROS-derived dam- striato-pallido-thalamic loop in patients with Tourette syn- age, impaired energy production and cell death especially drome [9]. Thus, pathological changes in the globus in basal ganglia that naturally contains high iron content pallidus of PKAN patients could readily explain the occur- [7]. rence of tics and Tourettism in these patients. The clinical features of PKAN are diverse and exten- In conclusion, cases mimicking, but not perfectly alike, sive depending on whether it begins early (typical form) a neurodevelopmental disorder, should be investigated fur- or later (atypical form) in life [7]. Among these variegated ther, and other possible underlying conditions such as Fig. 1 Axial brain MRI showing a typical eye of the tiger on T2 and FLAIR sequences (a and b respectively) Neurol Sci (2018) 39:1797 Table 1 Clinical features and genetic analysis of reported PKAN patients with tics and Tourettism. PubMed search was performed using the terms BNBIA^ OR Bneurodegenerationwithbrainiron accumulation^ OR BPKAN^ OR Bpantothenate kinase-associated neurodegeneration^ OR BHallervorden-Spatz syndrome^ AND Btics^ OR BTourette syndrome^ OR BTourettism^ – 1800 Author (year) Sex Age at Age at Initial symptom Tics Other neurologic signs Other psychiatric Brain MRI Mutation in PANK2 onset (y) report (y) and sign symptoms DNA Protein Hom/Het Nardocci et al. M 11 17 ADHD, tics, Motor-phonic tics Dystonia, gait disturbance, ADHD, OCD, Eye of the tiger NA NA NA (1994) stereotypies and hypokinesia, rigidity, impulsivity, compulsive low IQ, gait disturbance, stereotypies behavior retinal degeneration Scarano et al. M 10 22 Stuttering Motor-phonic tics Gait disturbance, rigidity, Impulsivity, Eye of the tiger NA NA NA (2002) dysarthria, brisk DTRs, hyperactivity low IQ, dysdiadokokinesia Pellechia et al. M 11 26 Motor tics, behav Motor-phonicl tics Dysphonia, pyramidal signs, Behav, OCD, Eye of the tiger c.460C > T p.Arg154Trp Het (2005) cognitive decline, gait hyperactivity c.A635G p.Asp212Gly disturbance M 16 33 Motor tics, behave Motor tics Dystonia, rigidity, pyramidal Behav, OCD Eye of the tiger c.740G > C p.Arg247Pro Hom and gait signs, cognitive decline, disturbance retinitis pigmentosa Briseno et al. F 3 45 Gait disturbance Motor-phonic tics Dysarthria, Parkinsonism, OCD, aggressiveness, Eye of the tiger c.1211A > T p.Asn404Ile Hom (2015) hyperreflexia, cognitive apathy and decline, abnormal eye pseudobulbar affect movements M 25 55 Gait disturbance Motor-phonic tics Dystonia, dysarthria, OCD, aggressiveness, Eye of the tiger c.1211A > T p.Asn404Ile Hom Parkinsonism, cognitive apathy and decline pseudobulbar affect M 8 49 Dysarthria Motor-phonic tics Dystonia, Parkinsonism, OCD Eye of the tiger c.1211A > T p.Asn404Ile Hom hyperreflexia, cognitive decline Molina da Costa F 11 13 Motor-phonic tics Motor-phonic tics Choreathetosis, Aggression, Eye of the tiger NA NA NA et al. (2016) cognitive decline hyperactivity This study M 10 13 ADHD Motor-phonic tics Dystonia ADHD, aggression, Eye of the tiger c.G833 T p.Arg278Leu Hom OCD M male, F female, NA not available, y year(s), Het heterozygous, Hom homozygous, Behav behavior disturbance, ADHD attention deficit hyperactivity disorder, OCD obsessive-compulsive disorder, DTR deep tendon reflexes 1799 1800 Neurol Sci (2018) 39:1797–1800 PKAN have to be taken into account, before an incorrect 3. Scarano V, Pellecchia MT, Filla A, Barone P (2002) Hallervorden- diagnosis is drawn.
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