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1.
OBSERVATION Choreoacanthocytosis in a
Mexican Family Jose L. Ruiz-Sandoval, MD; Vıctor Garcıa-Navarro, MD; Erwin Chiquete, MD, PhD; Carol Dobson-Stone, DPhil; ´ ´ ´ ´ ´ Anthony P. Monaco, MD, PhD; Lucıa E. Alvarez-Palazuelos, MD; Juan J. Padilla-Martınez, MD; ´ Esperanza Barrera-Chairez, MD; Erika I. Rodrıguez-Figueroa, MD; Guillermo Perez-Garcıa, MD ´ ´ ´ Background: Choreoacanthocytosis (CHAC) (Online lip and tongue biting with buccolingual self-mutilation, Mendelian Inheritance in Man accession No. 200150) is dysarthria, dysphagia, and weight loss. The first clinical a hereditary neurodegenerative syndrome characterized manifestations in the proband’s sister occurred at age 45 by movement disorders, cognitive decline, myopathy, be- years and included multiple motor and verbal tics, with havioral changes, and acanthocytosis and is caused by coprolalia, followed by lip and tongue biting, self- mutations in the VPS13A gene. mutilation, and chorea. The clinical findings in both sis- ters were remarkable for acanthocytosis that developed Objective: To describe the cases of 2 Mexican women late, when neurologic changes were already evident. Mu- with clinical and molecular characteristics compatible with tation screening of the VPS13A gene revealed homozy- CHAC. gosity for the frameshift mutation c.3556_3557dupAC in exon 33. Currently, the proband’s sister, in whom neu- Design: Case reports. rologic defects developed 13 years after onset of CHAC in the proband, is the least affected. Patients: Choreoacanthocytosis was identified in 2 Mexi- can mestizo sisters with healthy consanguineous par- Conclusions: The same mutation of the VPS13A gene ents. Clinical manifestations began at different ages. can be expressed differently in the same family. This ob- servation confirms the notion that there is considerable Results: The onset of signs and symptoms of CHAC in heterogeneity in the clinical manifestation of CHAC. the proband was at age 32 years and was characterized by balancing problems followed by chorea, compulsive Arch Neurol. 2007;64(11):1661-1664 C HOREOACANTHOCYTOSIS notype (McLeod syndrome), an X-linked (CHAC) is a type of neuroacanthocytosis in which erythro- neuroacanthocytosis, a cyte protein abnormalities have been much heterogeneousgroupofhe- studied.4 reditarysyndromescharac- A detailed description of neuropatho- terized by the association of neurologic ab- logic findings in 2 Mexican patients af- normalities with acanthocytic red blood fected with CHAC was published in 1989.5 Author Affiliations: cells.1,2 Choreoacanthocytosis is mainly an Since then, to our knowledge, no further Departments of Neurology autosomal recessive disorder caused by a descriptions of Mexican patients with and Neurosurgery variety of mutations in the VPS13A gene CHAC have been published in the scien- (Drs Ruiz-Sandoval, (Online Mendelian Inheritance in Man ac- tific literature. The purpose of the pres- Garcıa-Navarro, Chiquete, ´ cession No. 200150; available at http://www ent report is to report the cases of 2 sis- ´ Alvarez-Palazuelos, .ncbi.nlm.nih.gov/omim/). The exact patho- ters with the clinical phenotype of CHAC, Padilla-Martınez, and ´ Rodrıguez-Figueroa), ´ physiologic mechanisms remain largely with the mutation c.3556_3557dupAC in Hematology (Dr Barrera- unknown, and no obvious genotype- the VPS13A gene causing the disorder. Chairez), and Genetics phenotype correlation has been described (Dr Perez-Garcıa), Hospital ´ ´ to date.3 The clinical manifestation in- REPORT OF CASES Civil de Guadalajara “Fray cludes progressive movement disorders Antonio Alcalde,” Universidad (primarily chorea but occasionally parkin- de Guadalajara, Guadalajara, sonism), clinical or subclinical myopathy, CASE 1 Jalisco, Mexico; Prince of Wales cognitive decline, compulsive behavior, and Medical Research Institute and acanthocytosis of the red blood cells.3,4 Dys- The proband, a 42-year-old woman with University of New South Wales, tonia is frequent, affecting the oral region healthy parents in a consanguineous re- Randwick, Australia (Dr Dobson-Stone); and and causing dysarthria and dysphagia with lationship (first-degree cousins) was 32 Wellcome Trust Centre for resultant weight loss. Seizures occur in al- years old when the first clinical manifes- Human Genetics, University of most 50% of patients.3 Clinical manifesta- tations appeared. These included fre- Oxford, Oxford, England tions of CHAC overlap considerably with quent falls and abrupt, undulant, asym- (Dr Monaco). those seen in chorea with the McLeod phe- metric involuntary movements of the (REPRINTED) ARCH NEUROL / VOL 64 (NO. 11), NOV 2007 WWW.ARCHNEUROL.COM 1661 Downloaded from www.archneurol.com at N/A, on November 14, 2007 ©2007 American Medical Association. All rights reserved.
2.
A
B C Figure 1. Patient with choreoacanthocytosis. A, Note self-mutilation of the lips owing to orofacial dyskinesia. B, Peripheral blood smear exhibits acanthocytes (Wright-Giemsa, original magnification, 100). C, Coronal view of T1-weighted magnetic resonance image shows atrophy of the caudate nuclei. atine kinase (395 U/L; reference range, 22-269 U /L) and G G C A A C A C T G T T C A G heterozygous ε3/ε4 genotype of apolipoprotein E. There were no remarkable results for -tocopherol, cobala- ∗ ∗ Case 1 min, ceruloplasmin, and copper concentrations in plasma or for lipoprotein electrophoresis and iron kinetics. As- sessment of peripheral nerve conduction velocity re- G G C A A C A C T G T T C A G vealed a severe polyneuropathic axonal sensorimotor de- fect. Brain imaging assessment included computed Case 2 ∗ ∗ tomography and magnetic resonance imaging, which dem- onstrated global atrophy, especially of the caudate nu- clei (Figure 1). Magnetic resonance spectroscopy of the G G C A A C T G T T C A G G brain showed no meaningful results. Control CASE 2 The proband’s 54-year-old sister experienced the onset Figure 2. Sequence chromatograms show the VPS13A c.3556_3557dupAC of signs of CHAC at age 45 years, characterized by mul- mutation found in patients 1 and 2. Asterisks indicate the inserted bases. tiple motor and verbal tics, both simple and complex; para- noid behavior; coprolalia; and lip and tongue biting with trunk, neck, and upper limbs, associated with compul- buccolingual self-mutilation. She refused to undergo neu- sive lip and tongue biting. At age 35 years, she began to rologic evaluation and complied poorly with therapy. experience episodes of anxiety and depression. Three years Given the awareness of the diagnosis of CHAC in her sis- later, there was dysphagia to solid foods, dysarthria, and ter, no other diagnostic procedures were performed ex- orofacial dyskinesia, with buccolingual self-mutilation cept for PBS and mutation screening of the VPS13A gene. (Figure 1) and consequent weight loss of 12 kg. At age She is walking at home but with frequent falls and de- 40 years, she could not walk because of hypotonia of the pendence on her family. legs. The dysphagia worsened, and she was able to swal- low only liquids and semisolid foods. Multiple pharma- MOLECULAR GENETIC ASSESSMENT cologic approaches, including benzodiazepine, oral non- deposit form of haloperidol, biperiden hydrochloride, In patient 1, DNA was screened for VPS13A mutations trihexyphenidyl hydrochloride, clonazepam, levodopa, by denaturing high-performance liquid chromatogra- fluoxetine hydrochloride, and vitamin B complex therapy, phy followed by direct sequencing, as described else- were sequentially initiated in an attempt to control symp- where.6 We confirmed the presence of the mutation in toms, but with limited response. Two years later, at age patient 2 by direct sequencing. Both patients were ho- 42 years, she became emaciated, anarthric, and reactive mozygous for a frameshift mutation in exon 33 to the environment, performing only simple com- (c.3556_3557dupAC) (Figure 2), a genetic change first mands. The lower cranial nerves were patently affected, detected in a family from the United States (family with lingual atrophy and paralysis. The arms and legs were CHAC4).7 Patients 1 and 2 have 2 sisters (one of them flaccid, paretic, and hyporeflexic. Given the clinical sus- with compulsive alcoholism) and 2 brothers, all older than picion of CHAC, several peripheral blood smear (PBS) 30 years, who are otherwise healthy (Figure 3). Serial preparations were analyzed, initially yielding nonsignifi- PBS preparations from the case patients’ siblings and neph- cant results. However, as a consequence of the fortu- ews have been analyzed, yielding unremarkable results itous finding of erythrocyte acanthocytosis in her sister to date. Genetic counseling has been provided, but given several months later, a new PBS was analyzed, which re- the recessive inheritance of this syndrome, the family has vealed 40% acanthocytes (Figure 1). Other significant refused genotyping unless another member with symp- laboratory findings included elevated MB fraction of cre- toms of CHAC is identified. (REPRINTED) ARCH NEUROL / VOL 64 (NO. 11), NOV 2007 WWW.ARCHNEUROL.COM 1662 Downloaded from www.archneurol.com at N/A, on November 14, 2007 ©2007 American Medical Association. All rights reserved.
3.
COMMENT
I 1 2 We present the case reports of 2 sisters with the rare CHAC II syndrome. To our knowledge, this is the second report 1 2 3 4 P 5 6 7 8 of this disorder in Mexicans.5,7 Although the same mu- tation of the VPS13A gene was responsible for the dis- III 1 2 3 4 ease, the clinical expression differed between the 2 sis- ters for age at onset, appearance of neurologic findings, and severity of disease. These findings confirm that clini- Figure 3. Family pedigree. Arrow indicates the proband (P); circles, females; cal heterogeneity seems to be the rule in CHAC.8,9 It is squares, males; solid symbols, individuals affected with choreoacanthocyto- possible that gene environment or complex interactions sis; and slashes, deceased members. among products of different genes are responsible for the variable expression of this syndrome. The exact deter- the frontal cortex.16 The differential diagnosis of CHAC minants of the clinical spectrum of CHAC will be clari- includes McLeod syndrome, abetalipoproteinemia, fied when the function of the product encoded by the Hallervorden-Spatz syndrome, Wilson disease, Guilles de VPS13A gene is known. la Tourette syndrome, Huntington disease, Lesch-Nyhan The VPS13A gene (formerly CHAC gene) is located at syndrome, and dentatorubral and pallidoluysian degen- chromosome locus 9q21, spanning a 250-kb region with eration, among several other conditions.12 To date, there at least 73 exons.10 This gene encodes the chorein pro- is no effective treatment of CHAC, and death usually oc- tein, which is thought to have a role in the dynamic change curs as a consequence of emaciation and prostration. of cellular structures.10 Choreoacanthocytosis occurs In conclusion, CHAC occurs worldwide, with vari- worldwide in individuals of different ethnic back- able clinical expression, even in individuals from the same grounds, and various mutations in VPS13A cause the dis- family and, thus, sharing the same mutation of the VPS13A order.8 Inheritance is primarily autosomal recessive, but gene. Our observation suggests that complex gene- autosomal dominant inheritance has also been de- environment or gene-gene interactions may influence the scribed.11 The clinical manifestations of CHAC develop phenotype of CHAC. Because PBS analysis is inexpen- between the third and fifth decades of life, primarily be- sive and readily available, it can be performed serially in ginning with balancing problems and hyperkinetic cho- patients who are at risk of the disease; especially those reic movements. Hypokinetic forms are infrequent and with movement disorders and first-degree relatives hav- usually develop late in the course of the disease.3,12 In our ing a confirmed diagnosis of CHAC. patients, we documented the hyperkinetic form of CHAC. Cognitive changes occur in more than half of affected in- dividuals and consist of depression, suicide ideation, ob- Accepted for Publication: January 31, 2007. sessive-compulsive disorder, and symptoms of frontal lobe Correspondence: Jose L. Ruiz-Sandoval, MD, Depart- ´ involvement. In the 2 cases described herein, the pro- ment of Neurology and Neurosurgery, Hospital Civil de band’s sister exhibited paranoid and schizophrenic be- Guadalajara “Fray Antonio Alcalde,” Hospital 278, Guad- havior including isolation, coprolalia, and depression, as alajara, Jalisco, Mexico 44280 (jorusan@mexis.com). in Guilles de la Tourette syndrome. Author Contributions: Study concept and design: Ruiz- The hematologic feature acanthocytosis in the con- Sandoval and Rodrıguez-Figueroa. Acquisition of data: ´ text of neurologic abnormalities was first described by Garcı a-Navarro, Dobson-Stone, Monaco, Alvarez- ´ Estes et al13 in 1967. Acanthocytes can constitute from Palazuelos, Padilla-Martınez, and Perez-Garcıa. Analy- ´ ´ ´ 5% to 50% of erythrocytes in a PBS from a patient with sis and interpretation of data: Chiquete, Monaco, and CHAC. This hematologic finding may appear late in Barrera-Chairez. Drafting of the manuscript: Ruiz- the course of the disease, and the possibility of a posi- Sandoval, Chiquete, Dobson-Stone, Alvarez-Palazuelos, tive result depends on the laboratory method used.14 Padilla-Martı nez, Barrera-Chairez, and Rodrı guez- ´ ´ Isotonically diluted blood can yield higher acantho- Figueroa. Critical revision of the manuscript for impor- cyte levels than standard dry blood smear prepara- tant intellectual content: Ruiz-Sandoval, Garcıa-Navarro, ´ tions; thus, use of isotonically diluted erythrocytes Dobson-Stone, and Monaco. Administrative, technical, and combined with unfixed wet blood preparations would material support: Garcıa-Navarro, Chiquete, Barrera- ´ yield a normal level of less than 6.3% acanthocytes Chairez, Rodrıguez-Figueroa, and Perez-Garcıa. Study su- ´ ´ ´ relative to total erythrocytes. This method is recom- pervision: Ruiz-Sandoval and Monaco. mended in screening for serious acanthocytosis in Financial Disclosure: None reported. movement disorders because it is inexpensive and easy Additional Contributions: Lea A. Filippone, BA, assisted to perform.14 in mutation detection. Other nonspecific laboratory findings in CHAC in- clude elevated plasma activity of creatine kinase and lac- REFERENCES tic dehydrogenase.3,15 Computed tomographic and mag- netic resonance images can demonstrate atrophy of the 1. Critchley EM, Clark DB, Wikler A. Acanthocytosis and neurological disorder with- out betalipoproteinemia. Arch Neurol. 1968;18(2):134-140. caudate nuclei, and positron emission tomographic or 2. Levine IM, Estes JW, Looney JM. Hereditary neurological disease with acantho- single-photon emission computed tomographic images re- cytosis: a new syndrome. Arch Neurol. 1968;19(4):403-409. veal hypoactivity of the basal ganglia and occasionally of 3. 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