Pathological laughter and crying in patients with multiple system atrophy-cerebellar type.

In the cerebellar type of multiple system atrophy (MSA-C), the burden of pathological changes involves the cerebellum and its associated brainstem structures in the basis pontis and the inferior olivary nucleus, and as a result, the clinical phenotype is dominated early on by the cerebellar dysfunction. We report our clinical and post mortem findings in a patient with MSA-C who exhibited pathological laughter in the absence of any congruent changes of mood. A review of the clinical notes of 27 other patients with MSA-C revealed a problem with pathological laughter, or crying, or both in 9 more patients. Our finding of about 36% occurrence suggests that the problem of dysregulation of emotional expression is more prevalent in MSA-C than the paucity of reports in the literature suggests. Our findings are consistent with the view that the cerebellum and its interconnected structures may be involved in the regulation of emotional expression.     

Evidence for reduced cerebellar volumes in trichotillomania.

BACKGROUND: Limited knowledge exists regarding the neurobiology of trichotillomania (TTM). Cerebellum (CBM) volumes were explored, given its role in complex, coordinated motor sequences. METHODS: Morphometric magnetic resonance imaging (MRI) scans were obtained for 14 female subjects with DSM-IV diagnoses of TTM and 12 age-, education-, and gender-matched normal control (NC) participants. Parcellation was performed utilizing a recently developed methodology to measure subterritory volumes of the CBM. Regions were defined based on knowledge of the structural and functional subunits of the CBM. RESULTS: As predicted, significant group differences were reported for CBM raw cortical volumes (p = .008) that survived correction for total brain volume (TBV; p = .037) and head circumference (HC; p = .011). A priori and post hoc group raw volume comparisons for CBM subterritories and functional clusters revealed many significant differences. However, most differences failed to withstand correction for total CBM volumes (TCV). Smaller volumes were consistently reported for the TTM versus NC cohorts. Total Massachusetts General Hospital Hair Pulling Scale (MGHHPS) scores were significantly inversely correlated with left primary sensorimotor cluster volumes (p = .008), with smaller volumes associated with more severe TTM symptoms. CONCLUSIONS: These findings implicate the CBM in the neurobiology of TTM, with reduced subterritory volumes reported for the TTM versus NC groups.     

Consensus Paper: Language and the Cerebellum: an Ongoing Enigma

In less than three decades, the concept “cerebellar neurocognition” has evolved from a mere afterthought to an entirely new and multifaceted area of neuroscientific research. A close interplay between three main strands of contemporary neuroscience induced a substantial modification of the traditional view of the cerebellum as a mere coordinator of autonomic and somatic motor functions. Indeed, the wealth of current evidence derived from detailed neuroanatomical investigations, functional neuroimaging studies with healthy subjects and patients and in-depth neuropsychological assessment of patients with cerebellar disorders shows that the cerebellum has a cardinal role to play in affective regulation, cognitive processing, and linguistic function. Although considerable progress has been made in models of cerebellar function, controversy remains regarding the exact role of the “linguistic cerebellum” in a broad variety of nonmotor language processes. This consensus paper brings together a range of different viewpoints and opinions regarding the contribution of the cerebellum to language function. Recent developments and insights in the nonmotor modulatory role of the cerebellum in language and some related disorders will be discussed. The role of the cerebellum in speech and language perception, in motor speech planning including apraxia of speech, in verbal working memory, in phonological and semantic verbal fluency, in syntax processing, in the dynamics of language production, in reading and in writing will be addressed. In addition, the functional topography of the linguistic cerebellum and the contribution of the deep nuclei to linguistic function will be briefly discussed. As such, a framework for debate and discussion will be offered in this consensus paper.     

Superior labrum anterior-posterior lesions: diagnosis with MR arthrography of the shoulder

PURPOSE: To determine the accuracy of magnetic resonance (MR) arthrography in the diagnosis of superior labrum anterior-posterior (SLAP) lesions of the shoulder. MATERIALS AND METHODS: From January 1995 to June 1998, MR arthrography of the shoulder was performed in 159 patients with a history of chronic shoulder pain or instability. Fifty-two patients underwent arthroscopy or open surgery 12 days to 5 months after MR arthrography. Diagnostic criteria for SLAP lesion included marked fraying of the articular aspect of the labrum, biceps anchor avulsion, inferiorly displaced bucket handle fragment, and extension of the tear into the biceps tendon fibers. Surgical findings were correlated with those from MR arthrography. RESULTS: SLAP injuries were diagnosed at surgery in 19 of the 52 patients (37%). Six of the 19 lesions (32%) were classified as type I, nine (47%) as type II, one (5%) as type III, and three (16%) as type IV. MR arthrography had a sensitivity of 89% (17 of 19 patients), a specificity of 91% (30 of 33 patients), and an accuracy of 90% (47 of 52 patients). The MR arthrographic classification showed correlation with the arthroscopic or surgical classification in 13 of 17 patients (76%) in whom SLAP lesions were diagnosed at MR arthrography. CONCLUSION: MR arthrography is a useful and accurate technique in the diagnosis of SLAP lesions of the shoulder. MR arthrography provides pertinent preoperative information with regard to the exact location of tears and grade of involvement of the biceps tendon.     

The Diagnosis and Natural History of Multiple System Atrophy,Cerebellar Type

The objective of this study was to identify key features differentiating multiple system atrophy cerebellar type (MSA-C) from idiopathic late-onset cerebellar ataxia (ILOCA). We reviewed records of patients seen in the Massachusetts General Hospital Ataxia Unit between 1992 and 2013 with consensus criteria diagnoses of MSA-C or ILOCA. Twelve patients had definite MSA-C, 53 had possible/probable MSA-C, and 12 had ILOCA. Autonomic features, specifically urinary urgency, frequency, and incontinence with erectile dysfunction in males, differentiated MSA-C from ILOCA throughout the disease course (p?=?0.005). Orthostatic hypotension developed later and differentiated MSA-C from ILOCA (p?<?0.01). REM sleep behavior disorder (RBD) occurred early in possible/probable MSA-C (p?<?0.01). Late MSA-C included pathologic laughing and crying (PLC, p?<?0.01), bradykinesia (p?=?0.01), and corticospinal findings (p?=?0.01). MRI distinguished MSA-C from ILOCA by atrophy of the brainstem (p?<?0.01) and middle cerebellar peduncles (MCP, p?=?0.02). MSA-C progressed faster than ILOCA: by 6 years, MSA-C walker dependency was 100 % and ILOCA 33 %. MSA-C survival was 8.4?±?2.5 years. Mean length of ILOCA illness to date is 15.9?±?6.4 years. A sporadic onset, insidiously developing cerebellar syndrome in midlife, with autonomic features of otherwise unexplained bladder dysfunction with or without erectile dysfunction in males, and atrophy of the cerebellum, brainstem, and MCP points strongly to MSA-C. RBD and postural hypotension confirm the diagnosis. Extrapyramidal findings, corticospinal tract signs, and PLC are helpful but not necessary for diagnosis. Clarity in early MSA-C diagnosis can prevent unnecessary investigations and facilitate therapeutic trials.     

Hypertrophic pachymeningitis and cerebral venous sinus thrombosis in inflammatory bowel disease

Hypertrophic pachymeningitis is rarely observed in inflammatory bowel disease. We report a woman with ulcerative colitis whose biopsy-confirmed hypertrophic pachymeningitis was complicated by cerebral venous sinus thrombosis and intracranial hypertension and required ventriculostomy and steroid therapy. This report highlights the challenges of the diagnosis and management of hypertrophic pachymeningitis from an unusual primary cause.     

Development of a brief ataxia rating scale (BARS) based on a modified form of the ICARS

To develop a brief ataxia rating scale (BARS) for use by movement disorder specialists and general neurologists. Current ataxia rating scales are cumbersome and not designed for clinical practice. We first modified the International Cooperative Ataxia Rating Scale (ICARS) by adding seven ataxia tests (modified ICARS, or MICARS), and observed only minimally increased scores. We then used the statistics package R to find a five‐test subset in MICARS that would correlate best with the total MICARS score. This was accomplished first without constraints and then with the clinical constraint requiring one test each of Gait, Kinetic Function‐Arm, Kinetic Function‐Leg, Speech, and Eye Movements. We validated these clinical constraints by factor analysis. We then validated the results in a second cohort of patients; evaluated inter‐rater reliability in a third cohort; and used the same data set to compare BARS with the Scale for the Assessment and Rating of Ataxia (SARA). Correlation of ICARS with the seven additional tests that when added to ICARS form MICARS was 0.88. There were 31,481 five‐test subtests (48% of possible combinations) that had a correlation with total MICARS score of ≥0.90. The strongest correlation of an unconstrained five‐test subset was 0.963. The clinically constrained subtest validated by factor analysis, BARS, had a correlation with MICARS‐minus‐BARS of 0.952. Cronbach alpha for BARS and SARA was 0.90 and 0.92 respectively; and inter‐rater reliability (intraclass correlation coefficient) was 0.91 and 0.93 respectively. BARS is valid, reliable, and sufficiently fast and accurate for clinical purposes. © 2009 Movement Disorder Society     

Myocardial blood flow and oxygen consumption in patients with Friedreich's ataxia prior to the onset of cardiomyopathy

OBJECTIVES: We tested the hypothesis, in patients with Friedreich's ataxia and no overt structural heart disease, that impairment of cardiac oxidative metabolism may be compensated for either by increased rest myocardial blood flow or more efficient oxygen consumption in performance of external work. BACKGROUND: Friedreich's ataxia is characterized by a mutant frataxin gene, which causes mitochondrial iron overload and impaired energy production. Further, it is frequently associated with cardiomyopathy. Studies using magnetic resonance spectroscopy, however, suggest impaired cardiac energetics even in the absence of structural heart disease. METHODS: Positron emission tomography measured rest myocardial blood flow (N-13-ammonia method) and myocardial oxygen consumption (11-C-acetate, Kmono) in Friedreich's ataxia patients (n=8; 31+/-5 years, mean+/-SD, four women) and healthy controls (n=8; 30+/-7 years, five women) matched for stroke work index and age. Stroke work index and power were determined by electrocardiogram gated positron emission tomography N-13-ammonia using modified Simpson's rule to compute left ventricular volumes. RESULTS: Neither stroke work index nor rest myocardial blood flow differed significantly between the groups. Although myocardial oxygen consumption was lower in Friedreich's ataxia (P<0.001), Kmono/rest myocardial blood flow, an index of myocardial oxygen extraction, did not differ between the groups. Power/Kmono, an index of the efficiency of myocardial oxygen consumption, was greater in Friedreich's ataxia (P<0.04). Rest myocardial blood flow normalized to rate pressure product was lower in Friedreich's ataxia (P<0.05). CONCLUSIONS: Prior to the onset of cardiomyopathy, selected patients with Friedreich's ataxia may compensate for impaired cardiac energetics through more efficient oxygen consumption rather than increased rest myocardial blood flow. The data illustrate a more general mechanism pertaining to metabolic regulation of myocardial blood flow and myocardial oxygen consumption.     

Course of the fiber pathways to pons from parasensory association areas in the rhesus monkey.

The course of the fiber pathways to pons from parasensory association areas in the rhesus monkey was investigated by injection of tritiated amino acids and the technique of autoradiography. Results confirm the projection to pons from parasensory association areas in the temporal, parietal, and occipital lobes and extend these observations to include the posterior parahippocampal gyrus. The findings reveal that the white matter of the posterior limb of the internal capsule above the midpoint of the lateral geniculate nucleus, and at the medial aspect of the lateral geniculate nucleus, comprise common regions through which these corticopontine fibers lead to the basis pontis. The fibers demonstrate a certain degree of topographic organization in the posterior limb of the capsule above the lateral geniculate nucleus and also in the cerebral peduncle. Taken together with previous observations concerning the termination patterns of these associative corticopontine projections, it would appear that the corticopontine system consists of segregated and partially overlapping pathways, which are to some extent distinguishable anatomically at each stage of their trajectory from origin to destination. Furthermore, the existence of a common area through which all parasensory associative input to pons is transmitted suggests that a precisely located lesion in this part of the corticopontocerebellar circuit may disrupt the cerebellar access to higher order information derived from the parasensory associative regions.