Sporadic Creutzfeldt-Jakob Disease Presenting as Progressive Nonfluent Aphasia With Speech Apraxia Christopher Kobylecki, PhD,*w Jennifer C. Thompson, PhD,*w Matthew Jones, MD,*w Samantha J. Mills, PhD,zy Sandip Shaunak, MD,8 James W. Ironside, FRCPath,z Julie S. Snowden, PhD,*w and Anna M. Richardson, FRCP*w Abstract: Progressive non-fluent aphasia (PNFA) is typically asso- ciated with pathological changes consistent with frontotemporal lobar degeneration. A 65-year-old male presented with effortful speech, markedly impaired naming and features of speech apraxia, consistent with PNFA. Perceptuospatial function, calculation and executive function were intact. Brain SPECT showed left perisylvian hypo- perfusion. He deteriorated profoundly over the subsequent eight months, with appearances on diffusion-weighted magnetic resonance imaging typical of sporadic Creutzfeldt-Jakob disease, which was confirmed pathologically at postmortem examination. While the presence of PNFA with speech apraxia is thought to predict under- lying tauopathy, sporadic Creutzfeldt-Jakob disease may mimic this presentation and present in a highly circumscribed form not previously described. Key Words: Creutzfeldt-Jakob disease, magnetic resonance imag- ing, diffusion-weighted studies, dementia, aphasia (Alzheimer Dis Assoc Disord 2013;27:384–386) S poradic Creutzfeldt-Jakob disease (sCJD) is a trans- missible neurodegenerative prion disease, with various clinical presentations including dementia, cerebellar syn- dromes, visuospatial disturbance, and akinetic mutism. 1 Patients with sCJD may present with focal cognitive syn- dromes, although a pure presentation with progressive aphasia has not been described previously. 2,3 We report a patient who presented with a circumscribed language dis- turbance consistent with progressive nonfluent aphasia (PNFA), in whom rapid progression and subsequent radio- logic and pathologic findings confirmed a diagnosis of sCJD. CASE REPORT A 65-year-old university-educated right-handed man pre- sented with a 6-month history of word-finding difficulties. He first became aware of these problems abruptly; during a meeting, he found he was unable to retrieve certain words. Around the same time, his wife had noticed that he had begun to stutter when speaking on the telephone. Since then, he and his wife reported a rapid progression, with increasingly halting speech and marked word-finding difficulties, although his understanding appeared en- tirely intact. Previously fluent in German, he was no longer able to speak his second language. On clinical interview, they reported no clear problems in episodic memory, visual object recognition, or praxis, and he remained fully capable of all activities of daily living. His personality had not changed and there were no symptoms of anxiety or depression. There was no medical history of note, and he was taking no regular medications. His father, who had no history of dementia, had died at the age of 87, whereas his mother had died at the age of 82, having suffered from an unspecified dementia for the preceding 3 years. On examination, he was slightly dysarthric, but cranial nerve examination was otherwise normal. Tone and power were normal in all 4 limbs, although reflexes were somewhat brisker on the right side. He had bilateral grasp reflexes. A magnetic resonance imaging brain scan performed several months previously was normal. A 99 Tc-HMPAO SPECT scan showed left perisylvian hypo- perfusion (Fig. 1A). Detailed neuropsychological assessment was carried out. He was insightful into and extremely frustrated by the communication difficulties. Speech was effortful, with a tremulous, stuttering quality. He had clear word-retrieval difficulties and frequent pho- nological errors, of which he was aware and made successive at- tempts to correct. He could repeat monosyllabic word strings correctly; however, repetition of phrases and even single poly- syllabic words elicited phonological errors. Naming was markedly impaired, with just 1/30 items correctly named on the Graded Naming Test, and a tendency to substitute mime and functional description. In both reading and spelling, there were significant effects of word-length, but not imageability or frequency, suggest- ing that the performance accuracy was predicted by phonemic/ graphemic complexity. In contrast to these pervasive deficits in linguistic output, comprehension was preserved for both single words and complex sentences in both the verbal and the written domains. There was no suggestion of impairment on tasks of visual perception, spatial function, visual construction, calculation, or executive function. Verbal memory was compromised to a degree by linguistic impairment; however, his visual recognition memory was preserved and he was fully orientated, with a good grasp of current news events. Limb praxis was preserved; however, he had mild difficulty with buccofacial praxis: tongue movements were slow and jerky and he was unable to whistle or produce an effective cough. The initial findings were of circumscribed nonfluent dysphasia with evidence of speech apraxia, with preservation of other cog- nitive domains. At this stage, he was given a clinical diagnosis of PNFA. The patient attended a review 5 months after the initial as- sessment. His condition had deteriorated markedly to the extent that he could produce no intelligible speech. He had become emotionally labile and frequently laughed inappropriately. He no longer appeared distressed by his difficulties. He had developed a preference for sweet foods and a tendency to cram food into his mouth. He had also attempted to eat inedible objects, such as soap. There had been occasional urinary incontinence. On examination, there was mild right-sided rigidity, with a few right-sided myoclonic jerks. Plantar responses were flexor. On neuropsychological evaluation, Received for publication February 1, 2012; accepted May 7, 2012. From the *Cerebral Function Unit; yDepartment of Neuroradiology, Greater Manchester Neurosciences Centre, Salford; wMental Health and Neurodegeneration Research Group, School of Com- munity-Based Medicine; zSchool of Cancer and Enabling Sciences, University of Manchester, Manchester; 8Department of Neurology, Royal Preston Hospital, Preston; and zNational CJD Research and Surveillance Unit, Western General Hospital, Edinburgh, UK. The authors declare no conflicts of interest. Reprints: Christopher Kobylecki, PhD, Cerebral Function Unit, Greater Manchester Neurosciences Centre, Salford Royal Hospital, Stott Lane, Salford M6 8HD, UK (e-mail: christopher.kobylecki@ manchester.ac.uk). Copyright r 2012 by Lippincott Williams & Wilkins BRIEF REPORT 384 | www.alzheimerjournal.com Alzheimer Dis Assoc Disord  Volume 27, Number 4, October–December 2013