Adolescent; Atrophy; Cerebellum/abnormalities/pathology; Child; Child, Preschool; Female; Genes, Recessive; Genetic Diseases, Inborn/pathology; Humans; Infant; Magnetic Resonance Imaging; Male
Abstract :
[en] Amongst 78 patients with either unilateral or bilateral (ponto-) cerebellar hypoplasia, atrophy or lesions on neuro-imaging (CT and/or MRI), 16 showed unilateral hypoplasia or lesions, 15 vermis defects, nine pontocerebellar hypoplasia, 10 non-progressive conditions with bilateral cerebellar hemisphere hypoplasia or lesions and 28 progressive cerebellar atrophy. Known genetic conditions did not occur with unilateral cerebellar involvement, whereas a high incidence of mostly autosomal recessively inherited diseases could be diagnosed in more than half of the patients with either pontocerebellar hypoplasia or progressive bilateral cerebellar atrophy. A minority of patients with vermis defects or non-progressive cerebellar hypoplasia suffered from genetic conditions. An overview of the literature is presented describing genetic and non-genetic syndromes, or metabolic disorders associated with cerebellar structural abnormalities. From these data, new proposals for improved diagnostic investigations will be presented.
Disciplines :
Pediatrics Neurology
Author, co-author :
RAMAEKERS, Vincent ; University Hospital Aachen, Germany > Paediatrics > Paediatric Neurology
Abs R, Van Vleymen E, Parizel PM, Van Acker K, Martin M, Martin JJ. Congenital cerebellar hypoplasia and hypogonadotropic hypogonadism. J Neurol Sci 1990; 98: 259-65.
Aggerbeck LP, McMahon JP, Scanu AM. Hypobetalipoproteinemia: clinical and biochemical description of a new kindred with 'Friedreich's ataxia'. Neurology 1974; 24: 1051-63.
Akaboshi S, Ohno K, Takeshita K. Neuroradiological findings in the carbohydrate-deficient glycoprotein syndrome. Neuroradiology 1995; 37: 491-5.
Aukett A, Bennett MJ, Hosking GP. Molybdenum co-factor deficiency: an easily missed inborn error of metabolism. Dev Med Child Neurol 1988; 30: 531-5.
Barlow JK, Sims KB, Kolodny EH. Early cerebellar degeneration in twins with infantile neuroaxonal dystrophy. Ann Neurol 1989; 25: 413-5.
Baroncini A, Franco N, Forabosco A. A new family with chorioretinal dystrophy, spinocerebellar ataxia and hypogonadotropic hypogonadism (Boucher-Neuhäuser syndrome). Clin Genet 1991; 39: 274-7.
Barth PG. Pontocerebellar hypoplasias. An overview of a group of inherited neurodegenerative disorders with fetal onset. [Review]. Brain Dev 1993; 15: 411-22.
Barth PG, Vrensen GFJM, Uylings HBM, Oorthuys JWE, Stam FC. Inherited syndrome of microcephaly, dyskinesia and pontocerebellar hypoplasia: a systemic atrophy with early onset. J Neurol Sci 1990; 97: 25-42.
Barth PG, Hoffmann GF, Jaeken J, Lehnert W, Hanefeld F, van Gennip AE, et al. L-2-hydroxyglutaric acidemia: a novel inherited neurometabolic disease. Ann Neurol 1992; 32: 66-71.
Boltshauser E, Yalcinkaya C, Wichmann W, Reutter F, Prader A, Valavanis A. MRI in Cockayne syndrome type I. Neuroradiology 1989; 31: 276-7.
Bordarier C, Aicardi J. Dandy-Walker syndrome and agenesis of the cerebellar vermis: diagnostic problems and genetic counselling. [Review]. Dev Med Child Neurol 1990; 32: 285-94.
Bordarier C, Aicardi J, Goutières F. Congenital hydrocephalus and eye abnormalities with severe developmental brain defects: Warburg's syndrome. Ann Neurol 1984; 16: 60-5.
Brismar J, Brismar G, Coates R, Gascon G, Ozand P. Increased density of the thalamus on CT-scans in patients with GM2-gangliosidosis. AJNR Am J Neuroradiol 1990a; 11: 125-30.
Brismar J, Aqeel A, Brismar G, Coates R, Gascon G, Ozand P. Maple syrup urine disease. AJNR Am J Neuroradiol 1990b; 11: 1219-28.
Brockstedt M, Smit LME, de Grauw AJC, van der Klei-van Moorsel JM, Jakobs C. A new case of hyperargininaemia: neurological and biochemical findings prior to and during dietary treatment. Eur J Pediatr 1990; 149: 341-3.
Bürk K, Abele M, Fetter M, Dichgans J, Skalej M, Laccone F, et al. Autosomal dominant cerebellar ataxia type I: Clinical features and MRI in families with SCA1, SCA2 and SCA3. Brain 1996; 119: 1497-505.
Chitayat D, Chemke J, Gibson KM, Mamer OA, Kronick JB, McGill JJ, et al. 3-methylglutaconic aciduria: a marker for as yet unspecified disorders and the relevance of prenatal diagnosis in a 'new' type ('type 4'). J Inherit Metab Dis 1992a; 15: 204-12.
Chitayat D, Stalker HJ, Azouz EM. Autosomal recessive oral-facial-digital syndrome with resemblance to OFD types II,III,IV and VI: a new OFD syndrome? Am J Med Genet 1992b; 44: 567-72.
Clay SA, Shore NA, Landing BH. Triosephosphate isomerase deficiency: a case report with neuropathological findings. Am J Dis Child 1982; 136: 800-2.
Cleaver JE, Kraemer KH. Xeroderma pigmentosum. In: Scriver CR, Beaudet AL, Sly WS, Valle D, editors. The metabolic basis of inherited disease. 6th ed. New York: McGraw-Hill, 1989: 2949-71.
Crome L, Cowie V, Slater E. A statistical note on cerebellar and brainstem weight in mongolism. J Ment Defic Res 1966; 10: 69-72.
Dambska M, Wisniewski K, Sher J, Solish G. Cerebro-oculo-muscular syndrome: a variant of Fukuyama congenital cerebromuscular dystrophy. Clin Neuropathol 1982; 1: 93-8.
Damji KF, Allingham RR, Pollock SC, Small K, Lewis KE, Stajich JM, et al. Periodic vestibulocerebellar ataxia, an autosomal dominant ataxia with defective smooth pursuit, is genetically distinct from other autosomal dominant ataxias. [Review]. Arch Neurol 1996; 53: 338-44.
Dekaban AS. Hereditary syndrome of congenital retinal blindness (Leber), polycystic kidneys and maldevelopment of the brain. Am J Ophthalmol 1969; 68: 1029-37.
Demange P, Gia HP, Kalifa G, Sellier N. MR of Kearns-Sayre syndrome. AJNR Am J Neuroradiol 1989; 10 (5 Suppl): S91.
De Meirleir L, Lissens W, Denis R, Wayenberg JL, Michotte A, Brucher JM, et al. Pyruvate dehydrogenase deficiency: clinical and biochemical diagnosis. Pediatr Neurol 1993; 9: 216-20.
Dietemann JL,Filippi de la Palavesa MM,Tranchant C,Kastler B. MR findings in mannosidosis. Neuroradiology 1990; 32: 485-7.
DiMauro S, Zeviani M, Bonilla E, Bresolin N, Nakagawa M, Miranda AF, Moggio M. Cytochrome c oxidase deficiency. Biochem Soc Trans 1985; 13: 651-3.
Dooley JM, LaRoche GR, Tremblay F, Riding M. Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: a new syndrome [see comments]. Pediatr Neurol 1992; 8: 232-4. Comment in: Pediatr Neurol 1993; 9: 247.
Dooley JM, LaRoche GR, Tremblay F, Riding M. Autosomal recessive cerebellar hypoplasia and tapeto-retinal degeneration: a new syndrome [see comments]. Pediatr Neurol 1992; 8: 232-4. Comment in: Pediatr Neurol 1993; 9: 247.
Friede RL. Uncommon syndromes of cerebellar vermis aplasia. II: Tecto-cerebellar dysraphia with occipital encephalocele. Dev Med Child Neurol 1978; 20: 764-72.
Garborg I, Torvik A, Hals J, Tangsrud SE, Lindemann R. Congenital neuronal ceroid lipofuscinosis. Acta Pathol Microbiol Immunol Scand [A].1987; 95: 119-25.
Garcia CA, McGarry PA, Voirol M, Duncan C. Neurological involvement in the Smith-Lemli-Opitz syndrome. Dev Med Child Neurol 1973; 15: 48-55.
Garcia-Alix A, Blanco D, Cabanas F, Garcia Sanchez P, Pellicer A, Quero J. Early neurological manifestations and brain anomalies in Marden-Walker syndrome. Am J Med Genet 1992; 44: 41-5.
Gillespie FD. Aniridia, cerebellar ataxia, and oligophrenia in siblings. Arch Ophthalmol 1965; 73: 338-41.
Haataja L, Parkkola R, Sonninen P, Vanhanen SL, Schleutker J, Aärimaa T, et al. Phenotypic variation and magnetic resonance imaging (MRI) in Salla disease, a free sialic acid storage disorder. Neuropediatrics 1994; 25: 238-44.
Haltia M, Somer M. Infantile cerebello-optic atrophy: neuropathology of the progressive encephalopathy syndrome with edema, hypsarrhythmia and optic atrophy (the PEHO syndrome). Acta Neuropathol (Berl) 1993; 85: 241-7.
Haltia M, Rapola J, Santavuori P. Infantile type of so-called neuronal ceroid-lipofuscinosis. Acta Neuropathol (Berl) 1973; 26: 157-70.
Harding AE. The hereditary ataxias and related disorders. Edinburgh: Churchill Livingstone, 1984.
Hendriks HJ, Brunner HG, Haagen TA, Hamel BC. Acrocallosal syndrome. Am J Med Genet 1990; 35: 443-6.
Hoffmann GF, Charpentier C, Mayatepek E, Mancini J, Leichsenring M, Gibson KM, et al. Clinical and biochemical phenotype in 11 patients with mevalonic aciduria. Pediatrics 1993; 91: 915-21.
Horslen SP, Clayton PT, Harding BN, Hall NA, Keir G, Winchester B. Olivopontocerebellar atrophy of neonatal onset and disialotransferrin developmental deficiency syndrome. Arch Dis Child 1991; 66: 1027-32.
Hoyeraal HM, Lamvik J, Moe PJ. Congenital hypoplastic thrombocytopenia and cerebral malformations in two brothers. Acta Paediatr Scand 1970; 59: 185-91.
Hreidarsson S, Kristjansson K, Johannesson G, Johannsson JH. A syndrome of progressive pancytopenia with microcephaly, cerebellar hypoplasia and growth failure. Acta Paediatr Scand 1988; 77: 773-5.
Imamura A, Ito R, Tanaka S, Fukutomi O, Shimozawa N, Nishimura M, et al. High-intensity proton and T2-weighted MRI signals in the globus pallidus in juvenile-type of dentatorubral and pallidoluysian atrophy. Neuropediatrics 1994; 25: 234-7.
Jaeken J, Van den Berghe G. An infantile autistic syndrome characterised by the presence of succinylpurines in body fluids. Lancet 1984; 2: 1058-61.
Jaeken J, Eijk HG van, Heul C van der, Corbeel L, Eeckels R, Eggermont E. Sialic acid-deficient serum and cerebrospinal fluid transferrin in a newly recognized genetic syndrome. Clin Chim Acta 1984; 144: 245-7.
Jaeken J, Wadman SK, Duran M, van Sprang FJ, Beemer FA, Holl RA, et al. Adenylosuccinase deficiency: an inborn error of purine nucleotide synthesis. Eur J Pediatr 1988; 148: 126-31.
Jellinger K, Seitelberger F, Rosenkranz W. Infantile neuroaxonale dystrophie. Frühform mit bevorzugtem Kleinhirnbefall. Acta Neuropathol (Berl) 1968; 10: 123-31.
Jensen PR, Hansen PJ, Skovby F. Cerebellar hypoplasia in children with the carbohydrate-deficient glycoprotein syndrome. Neuroradiology 1995; 37: 328-30.
Jervis GA. Early familial cerebellar degeneration. J Nerv Ment Dis 1950; 111: 398-407.
Johnston MV, Barks J, Greenamyre T, Silverstein F. Use of toxins to disrupt neurotransmitter circuitry in the developing brain. In: Boer GJ, Feenstra MGP, Mirmiran M, Swaab DF, van Haaren F,editors. Biochemical basis of functional neuroteratology. Amsterdam: Elsevier, 1988: 425-46.
Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia and retardation. Neurology 1969; 19: 813-25.
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 [see comments]. Nat Genet 1994; 8: 221-8. Comment in: Nat Genet 1994; 8: 213-5.
Kawaguchi Y, Okamoto T, Taniwaki M, Aizawa M, Inoue M, Katayama S, et al. CAG expansions in a novel gene for Machado-Joseph disease at chromosome 14q32.1 [see comments]. Nat Genet 1994; 8: 221-8. Comment in: Nat Genet 1994; 8: 213-5.
Kendall BE. Disorders of lysosomes, peroxisomes, and mitochondria [see comments]. [Review]. AJNR Am J Neuroradiol 1992; 13: 621-53. Comment in: AJNR Am J Neuroradiol 1993; 14: 785.
Kendall BE. Disorders of lysosomes, peroxisomes, and mitochondria [see comments]. [Review]. AJNR Am J Neuroradiol 1992; 13: 621-53. Comment in: AJNR Am J Neuroradiol 1993; 14: 785.
Konrad PN, Richards F 2d, Valentine WN, Paglia DE.: Gamma-Glutamyl-cysteine synthetase deficiency: a cause of hereditary hemolytic anemia. N Engl J Med 1972; 286: 557-61.
Korf B, Wallman JK, Levy HL. Bilateral lucency of the globus pallidus complicating methylmalonic acidemia. Ann Neurol 1986; 20: 364-6.
Koskinen T, Sainio K, Rapola J, Pihko H, Paetau A. Sensory neuropathy in infantile onset spinocerebellar ataxia (IOSCA). Muscle Nerve 1994a; 17: 509-15.
Koskinen T, Santavuori P, Sainio K, Lappi M, Kallio AK, Pihko H. Infantile onset spinocerebellar ataxia with sensory neuropathy: a new inherited disease. J Neurol Sci 1994b; 121: 50-6.
Koskinen T, Pihko H, Voutilainen R. Primary hypogonadism in females with infantile onset spinocerebellar ataxia. Neuropediatrics 1995; 26: 263-6.
Lindvall O, Nilsson B. Cerebellar atrophy following phenytoin intoxication. Ann Neurol 1984; 16: 258-60.
Lissens W, De Meirleir L, Seneca S, Benelli C, Marsac C, Poll-The BT, et al. Mutation analysis of the pyruvate dehydrogenase E1 α gene in eight patients with a pyruvate dehydrogenase complex deficiency. Hum Mutat 1996; 7: 46-51.
Marinesco G, Draganesco S, Vasiliu D. Nouvelle maladie familiale caractérisée par une cataracte congénitale et un arrêt du développement somato-neuro-psychique. Encéphale 1931; 26: 97-109.
Matalon R, Michals K, Sebesta D, Deanching P, Gashkoff P, Casanova J. Aspartoacylase deficiency and N-acetylaspartic aciduria in patients with Canavan disease. Am J Med Genet 1988; 29: 463-71.
McLennan JE, Gilles FH, Robb RM. Neuropathological correlation in Sjögren-Larsson syndrome: oligophrenia, ichthyosis and spasticity. Brain 1974; 97: 693-708.
Naidich TP. Cranial CT signs of the Chiari II malformation. J Neuroradiol 1981; 8: 207-27.
Nakamura Y, Hashimoto T, Sasaguri Y, Yamana K, Tanaka S, Morodomi T, et al. Brain anomalies found in 18 trisomy: CT scanning, morphologic and morphometric study. Clin Neuropathol 1986; 5: 47-52.
Nechiporuk A, Frederick T, Lopes-Cendes I, Rouleau GA, Weissenbach JS, Kort E, et al. Genetic map of the spinocerebellar ataxia type 2 (SCA2) region on chromosome 12 [abstract]. Am J Hum Genet 1994; 55 (3 Suppl): A200.
Nishio H, Kodama S, Matsuo T, Ichihashi M, Ito H, Fujiwara Y. Cockayne syndrome: magnetic resonance images of the brain in a severe form with early onset. J Inherit Metab Dis 1988; 11: 88-102.
Norman RM. Primary degeneration of the granular layer of the cerebellum: an unusual form of familial cerebellar atrophy occurring in early life. Brain 1940; 63: 365-79.
Orr HT, Chung MY, Banfi S, Kwiatkowski TJ Jr, Servadio A, Beaudet AL, et al. Expansion of an unstable trinucleotide CAG repeat in spinocerebellar ataxia type I. Nat Genet 1993; 4: 221-6.
Otterbach B, Stoffel W, Ramaekers V. A novel mutation in the proteolipid protein gene leading to Pelizaeus-Merzbacher disease. Biol Chem Hoppe Seyler 1993; 374: 75-83.
Perlman JM, Argyle C. Lethal cytomegalovirus infection in preterm infants: clinical, radiological, and neuropathological findings. Ann Neurol 1992; 31: 64-8.
Pini G, Faulkner LB. Cerebellar involvement in hypomelanosis of Ito. Neuropediatrics 1995; 26: 208-10.
Pintos-Morell G, Naranjo MA, Artigas M, Roge M, Rodes M, Coll MJ, et al. Molybdenum cofactor deficiency associated with Dandy-Walker malformation. J Inherit Metab Dis 1995; 18: 86-7.
Press GA, Barshop BA, Haas RH, Nyhan WL, Glass RF, Hesselink JR. Abnormalities of the brain in non-ketotic hyperglycinemia. AJNR Am J Neuroradiol 1989; 10: 315-21.
Raininko R, Santavuori P, Heiskala H, Sainio K, Palo J. CT findings in neuronal ceroid lipofuscinoses. Neuropediatrics 1990; 21: 95-101.
Ramaekers VTh, Lake BD, Harding B, Boyd S, Harden A, Brett EM, et al. Diagnostic difficulties in infantile neuroaxonal dystrophy: a clinicopathological study of eight cases. Neuropediatrics 1987; 18: 170-5.
Ranum LPW, Schut LJ, Lundgren JK, Orr HT, Livingston DM. Spinocerebellar ataxia type 5 in a family descended from the grandparents of President Lincoln maps to chromosome 11. Nat Genet 1994; 8: 280-4.
Riccardi VM, Marcus ES. Congenital hydrocephalus and cerebellar agenesis. Clin Genet 1978; 13: 443-7.
Rizzo WB, Dammann AL, Craft DA. Sjögren-Larsson syndrome: impaired fatty alcohol oxidation in cultured fibroblasts due to deficient fatty alcohol: nicotinamide adenine dinucleotide oxidoreductase activity. J Clin Invest 1988; 81:738-44.
Robinson BH, De Meirleir L, Glerum M, Sherwood G, Becker L. Clinical presentation of mitochondrial respiratory chain defects in NADH-coenzyme Q reductase and cytochrome oxidase: clues to pathogenesis of Leigh disease. J Pediatr 1987; 110: 216-22.
Roels F, De Bie S, Schutgens RBH, Besley GTN, editors. Diagnosis of human peroxisomal disorders. A handbook. J Inherit Metab Dis 1995; 18 (Suppl 1): 1-226.
Röyttä M, Anttinen A. Xeroderma pigmentosum with neurological abnormalities. A clinical and neuropathological study. Acta Neurol Scand 1986; 73: 191-9.
Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase [see comments]. Science 1995; 268: 1749-53. Comment in: Science 1995; 268: 1700-1.
Savitsky K, Bar-Shira A, Gilad S, Rotman G, Ziv Y, Vanagaite L, et al. A single ataxia telangiectasia gene with a product similar to PI-3 kinase [see comments]. Science 1995; 268: 1749-53. Comment in: Science 1995; 268: 1700-1.
Skullerud K, Marstein S, Schrader H, Brundelet PJ, Jellum E. The cerebral lesions in a patient with generalized glutathione deficiency and pyroglutamic aciduria (5-oxoprolinuria). Acta Neuropathol (Berl) 1980; 52: 235-8.
Sobrevilla LA, Goodman ML, Kane CA. Demyelinating central nervous system disease, macular atrophy and acanthocytosis (Bassen-Kornzweig syndrome). Am J Med 1964; 37: 821-8.
Sofer D, Grotsky HW, Rapin I, Suzuki K. Cockayne syndrome. Unusual neuropathological findings and review of the literature. [Review]. Ann Neurol 1979; 6: 340-8.
Stibler H, Jaeken J. Carbohydrate deficient serum transferrin in a new systemic hereditary syndrome. Arch Dis Child 1990; 65: 107-11.
Stibler H, Westerberg B, Hanefeld F, Hagberg B. Carbohydrate-deficient glycoprotein (CDG) syndrome-a new variant, Type III. Neuropediatrics 1993; 24: 51-2.
Stratton RF, Bluestone DL. Oto-palatal-digital syndrome type II with X-linked cerebellar hypoplasia/hydrocephalus. [Review]. Am J Med Genet 1991; 41: 169-72.
Sugita K, Ando M, Makino M, Takanashi J, Fujimoto N, Niimi H. Magnetic resonance imaging of the brain in congenital rubella virus and cytomegalovirus infections. Neuroradiology 1991; 33: 239-42.
Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, et al. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome [see comments]. N Engl J Med 1994; 330: 107-13. Comment in: N Engl J Med 1994; 330: 1685-7.
Tint GS, Irons M, Elias ER, Batta AK, Frieden R, Chen TS, et al. Defective cholesterol biosynthesis associated with the Smith-Lemli-Opitz syndrome [see comments]. N Engl J Med 1994; 330: 107-13. Comment in: N Engl J Med 1994; 330: 1685-7.
Torbergsen T, Aasly J, Borud O, Lindal S, Mellgren SI. Mitochondrial myopathy in Marinesco-Sjögren syndrome. J Ment Defic Res 1991; 35: 154-9.
Torvik A, Torp S, Kase BF, Ek J, Skjeldal O, Stokke O. Infantile Refsum's disease: a generalized peroxisomal disorder. Case report with postmortem examination. J Neurol Sci 1988; 85: 39-53.
Troost D, van Rossum A, Veiga Pires J, Willemse J. Cerebral calcifications and cerebellar hypoplasia in two children: clinical, radiologie and neuropathological studies-a separate neurodevelopmental entity. Neuropediatrics 1984; 15: 102-9.
Truwit CL, Barkovich AJ, Shanahan R, Maroldo TV. MR imaging of rhombencephalosynapsis. [Review]. AJNR Am J Neuroradiol 1991; 12: 957-65.
Uchiyama M, Hata Y, Tada S. MR imaging of adrenoleukodystrophy. Neuroradiology 1991; 33: 25-9.
Valk J, van der Knaap MS. Magnetic resonance of myelin, myelination and myelin disorders. Berlin: Springer Verlag, 1989
van Bogaert L, Radermecker MA. Une dysgenesie cerebelleuse chez un enfant du Radium. Rev Neurol (Paris) 1955; 93: 65-82.
van der Knaap MS, Valk J. The reflection of histology in MR imaging of Pelizaeus-Merzbacher disease. AJNR Am J Neuroradiol 1989; 10: 99-103.
van der Knaap MS, Valk J. The MR spectrum of peroxisomal disorders. Neuroradiology 1991; 33: 30-7.
Verloes A, Lambotte C. Further delineation of a syndrome of cerebellar vermis hypo/aplasia, oligophrenia, congenital ataxia, coloboma, and hepatic fibrosis. Am J Med Genet 1989; 32: 227-32.
Weinberg AG, Kirkpatrick JB. Cerebellar hypoplasia in Werdnig-Hoffmann disease. Dev Med Child Neurol 1975; 17: 511-6.
Whitsel EA, Castillo M, D'Cruz O. Cerebellar vermis and midbrain dysgenesis in oculomotor apraxia: MR findings. AJNR Am J Neuroradiol 1995; 16 (4 Suppl): 831-41.
Wichman A, Frank LM, Kelly TE. Autosomal recessive congenital cerebellar hypoplasia. Clin Genet 1985; 27: 373-82.
Williams DW 3rd, Elster AD, Ginsberg LE, Stanton C. Recurrent Lhermitte-Duclos disease: report of two cases and association with Cowden's disease. [Review]. AJNR Am J Neuroradiol 1992; 13: 287-90.
Yoshikawa H, Fueki N, Sugai K, Araki A, Sakuragawa N, Iio M. Decreased blood flow and oxygen metabolism in the cerebellum, brain stem and thalamus in a case with Menkes kinky hair disease. Brain Dev 1989; 11: 426-9.
Young ID, Moore JR, Tripp JH. Sex-linked recessive congenital ataxia. J Neurol Neurosurg Psychiatry 1987; 50: 1230-2.